Public Health Information Network Vocabulary Access and Distribution System (PHIN VADS)

11p15.4 microduplication syndrome (disorder) {770794008 , SNOMED-CT } 17q11.2 microduplication syndrome (disorder) {719583002 , SNOMED-CT } 2p13.2 microdeletion syndrome (disorder) {770756008 , SNOMED-CT } 3q27.3 microdeletion syndrome (disorder) {770719004 , SNOMED-CT } 3q29 microdeletion syndrome (disorder) {716456000 , SNOMED-CT } 8q13 microdeletion syndrome (disorder) {724147004 , SNOMED-CT } Ablepharon macrostomia syndrome (disorder) {718575002 , SNOMED-CT } Absence of fingerprints with congenital milia syndrome (disorder) {719595002 , SNOMED-CT } Acrocephalosyndactyly type I (disorder) {205258009 , SNOMED-CT } Acrocephalosyndactyly type V (disorder) {70410008 , SNOMED-CT } Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) {720464003 , SNOMED-CT } Acrodysostosis (disorder) {66758006 , SNOMED-CT } Acrokeratosis verruciformis of Hopf (disorder) {400085009 , SNOMED-CT } Acromegaloid facial appearance syndrome (disorder) {720456009 , SNOMED-CT } Acromicric dysplasia (disorder) {254090007 , SNOMED-CT } Acroosteolysis, keloid-like lesions, premature aging syndrome (disorder) {776417008 , SNOMED-CT } Acropectoral syndrome (disorder) {720412009 , SNOMED-CT } Acropectorovertebral dysplasia (disorder) {720457000 , SNOMED-CT } Acrorenoocular syndrome (disorder) {720415006 , SNOMED-CT } Actin accumulation myopathy (disorder) {702349003 , SNOMED-CT } Acute intermittent porphyria (disorder) {234422006 , SNOMED-CT } Adult onset autosomal dominant leukodystrophy (disorder) {448054001 , SNOMED-CT } Adult-onset cervical dystonia DYT23 type (disorder) {783242003 , SNOMED-CT } Adult-onset distal myopathy due to valosin containing protein mutation (disorder) {770792007 , SNOMED-CT } Albinism-deafness syndrome of Tietz (disorder) {403805009 , SNOMED-CT } Alexander's disease (disorder) {81854007 , SNOMED-CT } Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) {720980004 , SNOMED-CT } Alpha-B crystallin-related late-onset myopathy (disorder) {783770002 , SNOMED-CT } Alport syndrome autosomal dominant (disorder) {717766000 , SNOMED-CT } Amelogenesis imperfecta - hypoplastic autosomal dominant - local (disorder) {234961008 , SNOMED-CT } Amelogenesis imperfecta - hypoplastic autosomal dominant - rough (disorder) {234963006 , SNOMED-CT } Amelogenesis imperfecta - hypoplastic autosomal dominant - smooth (disorder) {234962001 , SNOMED-CT } Ameloonychohypohidrotic syndrome (disorder) {715404000 , SNOMED-CT } Amyotrophic lateral sclerosis type 4 (disorder) {784341001 , SNOMED-CT } Andersen Tawil syndrome (disorder) {422348008 , SNOMED-CT } Aneurysm osteoarthritis syndrome (disorder) {785808002 , SNOMED-CT } Angel-shaped phalangoepiphyseal dysplasia (disorder) {720984008 , SNOMED-CT } Aniridia and absent patella syndrome (disorder) {720467005 , SNOMED-CT } Aniridia and intellectual disability syndrome (disorder) {720468000 , SNOMED-CT } Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder) {720987001 , SNOMED-CT } Ankylosing vertebral hyperostosis with tylosis syndrome (disorder) {720492008 , SNOMED-CT } Antecubital pterygium syndrome (disorder) {784351000 , SNOMED-CT } Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) {763615003 , SNOMED-CT } Aphalangy and syndactyly with microcephaly syndrome (disorder) {720498007 , SNOMED-CT } Aplasia of fibula and ectrodactyly syndrome (disorder) {720952001 , SNOMED-CT } Arteriohepatic dysplasia (disorder) {31742004 , SNOMED-CT } Asymmetric crying face association (disorder) {51409009 , SNOMED-CT } Ataxia pancytopenia syndrome (disorder) {768556005 , SNOMED-CT } AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome (disorder) {774068004 , SNOMED-CT } Atrial septal defect, atrioventricular conduction defect syndrome (disorder) {725145002 , SNOMED-CT } Auriculo-condylar syndrome (disorder) {702443003 , SNOMED-CT } Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency (disorder) {771512003 , SNOMED-CT } Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) {722288007 , SNOMED-CT } Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) {778004006 , SNOMED-CT } Autosomal dominant adult-onset proximal spinal muscular atrophy (disorder) {784391002 , SNOMED-CT } Autosomal dominant aplasia and myelodysplasia (disorder) {778006008 , SNOMED-CT } Autosomal dominant beta2-microglobulinic amyloidosis (disorder) {722292000 , SNOMED-CT } Autosomal dominant brachyolmia (disorder) {717264003 , SNOMED-CT } Autosomal dominant centronuclear myopathy (disorder) {716696006 , SNOMED-CT } Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder) {722293005 , SNOMED-CT } Autosomal dominant Charcot-Marie-Tooth disease type 2 due to kinesin family member 5A mutation (disorder) {764730007 , SNOMED-CT } Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons (disorder) {782742006 , SNOMED-CT } Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (disorder) {717016001 , SNOMED-CT } Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (disorder) {764850002 , SNOMED-CT } Autosomal dominant Charcot-Marie-Tooth disease type 2B (disorder) {717008005 , SNOMED-CT } Autosomal dominant Charcot-Marie-Tooth disease type 2C (disorder) {717010007 , SNOMED-CT } Autosomal dominant Charcot-Marie-Tooth disease type 2D (disorder) {717011006 , SNOMED-CT } Autosomal dominant Charcot-Marie-Tooth disease type 2E (disorder) {717012004 , SNOMED-CT } Autosomal dominant Charcot-Marie-Tooth disease type 2F (disorder) {719510006 , SNOMED-CT } Autosomal dominant Charcot-Marie-Tooth disease type 2G (disorder) {719511005 , SNOMED-CT } Autosomal dominant Charcot-Marie-Tooth disease type 2I (disorder) {717013009 , SNOMED-CT } Autosomal dominant Charcot-Marie-Tooth disease type 2J (disorder) {717014003 , SNOMED-CT } Autosomal dominant Charcot-Marie-Tooth disease type 2K (disorder) {719512003 , SNOMED-CT } Autosomal dominant Charcot-Marie-Tooth disease type 2L (disorder) {719513008 , SNOMED-CT } Autosomal dominant Charcot-Marie-Tooth disease type 2M (disorder) {719514002 , SNOMED-CT } Autosomal dominant Charcot-Marie-Tooth disease type 2N (disorder) {719515001 , SNOMED-CT } Autosomal dominant Charcot-Marie-Tooth disease type 2O (disorder) {782829002 , SNOMED-CT } Autosomal dominant Charcot-Marie-Tooth disease type 2Q (disorder) {773393001 , SNOMED-CT } Autosomal dominant Charcot-Marie-Tooth disease type 2U (disorder) {765046002 , SNOMED-CT } Autosomal dominant childhood-onset proximal spinal muscular atrophy (disorder) {772129007 , SNOMED-CT } Autosomal dominant congenital benign spinal muscular atrophy (disorder) {763067000 , SNOMED-CT } Autosomal dominant cystoid macular edema (disorder) {312921000 , SNOMED-CT } Autosomal dominant deficiency of plasminogen (disorder) {95842004 , SNOMED-CT } Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) {716105001 , SNOMED-CT } Autosomal dominant dopa responsive dystonia (disorder) {715768000 , SNOMED-CT } Autosomal dominant dyskeratosis congenita (disorder) {707273001 , SNOMED-CT } Autosomal dominant epidermolysis bullosa simplex (disorder) {398170002 , SNOMED-CT } Autosomal dominant epilepsy with auditory features (disorder) {784377008 , SNOMED-CT } Autosomal dominant excess of transthyretin (disorder) {66185005 , SNOMED-CT } Autosomal dominant familial wooly hair (disorder) {403794008 , SNOMED-CT } Autosomal dominant focal dystonia DYT25 type (disorder) {719516000 , SNOMED-CT } Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering (disorder) {783136007 , SNOMED-CT } Autosomal dominant hereditary hemochromatosis (disorder) {719975002 , SNOMED-CT } Autosomal dominant hereditary spastic paraplegia (disorder) {737227004 , SNOMED-CT } Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder) {717045004 , SNOMED-CT } Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) {717046003 , SNOMED-CT } Autosomal dominant hypocalcemia (disorder) {711152006 , SNOMED-CT } Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder) {7731005 , SNOMED-CT } Autosomal dominant hypophosphatemic bone disease (disorder) {237890006 , SNOMED-CT } Autosomal dominant ichthyosis (disorder) {402770002 , SNOMED-CT } Autosomal dominant idiopathic familial dystonia (disorder) {230319002 , SNOMED-CT } Autosomal dominant intermediate Charcot-Marie-Tooth disease type A (disorder) {765744006 , SNOMED-CT } Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (disorder) {765745007 , SNOMED-CT } Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (disorder) {765746008 , SNOMED-CT } Autosomal dominant intermediate Charcot-Marie-Tooth disease type D (disorder) {765747004 , SNOMED-CT } Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder) {722294004 , SNOMED-CT } Autosomal dominant intermediate Charcot-Marie-Tooth disease type F (disorder) {770759001 , SNOMED-CT } Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain (disorder) {778003000 , SNOMED-CT } Autosomal dominant keratitis (disorder) {715339004 , SNOMED-CT } Autosomal dominant late onset basal ganglia degeneration (disorder) {230313001 , SNOMED-CT } Autosomal dominant late onset Parkinson disease (disorder) {716662004 , SNOMED-CT } Autosomal dominant late-onset retinal degeneration (disorder) {719431007 , SNOMED-CT } Autosomal dominant macrothrombocytopenia (disorder) {720521008 , SNOMED-CT } Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder) {725150008 , SNOMED-CT } Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder) {725151007 , SNOMED-CT } Autosomal dominant multiple pterygium syndrome (disorder) {771269000 , SNOMED-CT } Autosomal dominant muscular dystrophy not predominantly limb girdle (disorder) {240075007 , SNOMED-CT } Autosomal dominant muscular dystrophy with limb girdle distribution (disorder) {240067001 , SNOMED-CT } Autosomal dominant mutilating keratoderma (disorder) {239068002 , SNOMED-CT } Autosomal dominant myoglobinuria (disorder) {725903003 , SNOMED-CT } Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder) {770791000 , SNOMED-CT } Autosomal dominant omodysplasia (disorder) {725165009 , SNOMED-CT } Autosomal dominant osteopetrosis type 2 (disorder) {725050005 , SNOMED-CT } Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) {719518004 , SNOMED-CT } Autosomal dominant polycystic kidney disease (disorder) {765330003 , SNOMED-CT } Autosomal dominant popliteal pterygium syndrome (disorder) {718222000 , SNOMED-CT } Autosomal dominant primary hypomagnesemia with hypocalciuria (disorder) {725393000 , SNOMED-CT } Autosomal dominant primary microcephaly (disorder) {778070003 , SNOMED-CT } Autosomal dominant prognathism of mandible (disorder) {778069004 , SNOMED-CT } Autosomal dominant progressive external ophthalmoplegia (disorder) {827115000 , SNOMED-CT } Autosomal dominant progressive nephropathy with hypertension (disorder) {703310005 , SNOMED-CT } Autosomal dominant pseudoxanthoma elasticum (disorder) {403811007 , SNOMED-CT } Autosomal dominant pterygium of conjunctiva (disorder) {716197003 , SNOMED-CT } Autosomal dominant retinitis pigmentosa (disorder) {232052009 , SNOMED-CT } Autosomal dominant rhegmatogenous retinal detachment (disorder) {773727009 , SNOMED-CT } Autosomal dominant secondary polycythemia (disorder) {783202008 , SNOMED-CT } Autosomal dominant sensory neuropathy (disorder) {230553002 , SNOMED-CT } Autosomal dominant severe congenital neutropenia (disorder) {770947009 , SNOMED-CT } Autosomal dominant slowed nerve conduction velocity (disorder) {764854006 , SNOMED-CT } Autosomal dominant spastic ataxia type 1 (disorder) {784380009 , SNOMED-CT } Autosomal dominant spastic paraplegia type 29 (disorder) {733029008 , SNOMED-CT } Autosomal dominant spastic paraplegia type 36 (disorder) {723819007 , SNOMED-CT } Autosomal dominant spastic paraplegia type 37 (disorder) {763369007 , SNOMED-CT } Autosomal dominant spondylocostal dysostosis (disorder) {716232002 , SNOMED-CT } Autosomal dominant striatal neurodegeneration (disorder) {725392005 , SNOMED-CT } Autosomal dominant tubulointerstitial kidney disease (disorder) {726018006 , SNOMED-CT } Autosomal dominant variant form of albumin (disorder) {21367009 , SNOMED-CT } Autosomal dominant vitreoretinochoroidopathy (disorder) {711162004 , SNOMED-CT } Axenfeld anomaly (disorder) {204152008 , SNOMED-CT } Axial osteosclerosis (disorder) {254125009 , SNOMED-CT } Ballard syndrome (disorder) {722298001 , SNOMED-CT } Banki syndrome (disorder) {733093004 , SNOMED-CT } Behavioral variant of frontotemporal dementia (disorder) {716994006 , SNOMED-CT } Benign adult familial myoclonic epilepsy (disorder) {717225001 , SNOMED-CT } Benign autosomal dominant osteopetrosis (disorder) {75654009 , SNOMED-CT } Benign concentric annular macular dystrophy (disorder) {719520001 , SNOMED-CT } Benign familial mesial temporal lobe epilepsy (disorder) {770405003 , SNOMED-CT } Benign neonatal familial convulsions (disorder) {230410004 , SNOMED-CT } Best vitelliform macular dystrophy (disorder) {763387005 , SNOMED-CT } Bethlem myopathy (disorder) {718572004 , SNOMED-CT } Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder) {716741008 , SNOMED-CT } Bleeding diathesis due to thromboxane synthesis deficiency (disorder) {783194008 , SNOMED-CT } Blepharocheilodontic syndrome (disorder) {717911008 , SNOMED-CT } Blepharophimosis-mental retardation syndrome, Say-Barber-Biesecker-Young-Simpson type (disorder) {699298009 , SNOMED-CT } Blepharoptosis, myopia, ectopia lentis syndrome (disorder) {717915004 , SNOMED-CT } Blindness, scoliosis, arachnodactyly syndrome (disorder) {717920004 , SNOMED-CT } Book syndrome (disorder) {722296002 , SNOMED-CT } Brachydactyly and arterial hypertension syndrome (disorder) {720568003 , SNOMED-CT } Brachydactyly and distal symphalangism syndrome (disorder) {732956000 , SNOMED-CT } Brachydactyly and preaxial hallux varus syndrome (disorder) {732957009 , SNOMED-CT } Brachydactyly elbow wrist dysplasia (disorder) {764437006 , SNOMED-CT } Brachydactyly type A1 (disorder) {715720006 , SNOMED-CT } Brachydactyly type A2 (disorder) {720569006 , SNOMED-CT } Brachydactyly type A4 (disorder) {715721005 , SNOMED-CT } Brachydactyly type A5 (disorder) {720570007 , SNOMED-CT } Brachydactyly type A6 (disorder) {715722003 , SNOMED-CT } Brachydactyly type B2 (disorder) {770406002 , SNOMED-CT } Brachydactyly with syndactyly Zhao type (disorder) {720572004 , SNOMED-CT } Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) {720573009 , SNOMED-CT } Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder) {720574003 , SNOMED-CT } Branchiogenic deafness syndrome (disorder) {717944002 , SNOMED-CT } Branchiooculofacial syndrome (disorder) {449821007 , SNOMED-CT } Branchiootic syndrome (disorder) {764810000 , SNOMED-CT } BRCA1 associated protein 1 tumor predisposition syndrome (disorder) {765057007 , SNOMED-CT } Brooke-Spiegler syndrome (disorder) {703531009 , SNOMED-CT } Brugada syndrome (disorder) {418818005 , SNOMED-CT } Butterfly-shaped pigmentary macular dystrophy (disorder) {725590001 , SNOMED-CT } Cap myopathy (disorder) {703532002 , SNOMED-CT } Capillary malformation-arteriovenous malformation syndrome (disorder) {703533007 , SNOMED-CT } Cardiac anomaly and heterotaxy syndrome (disorder) {720605009 , SNOMED-CT } Cardiac arrhythmia ankyrin-B related (disorder) {764457005 , SNOMED-CT } Cardiospondylocarpofacial syndrome (disorder) {720612000 , SNOMED-CT } Carney complex (disorder) {733491005 , SNOMED-CT } Carpotarsal osteochondromatosis (disorder) {389272007 , SNOMED-CT } Cataract glaucoma syndrome (disorder) {718851007 , SNOMED-CT } Cataract with aberrant oral frenula and growth delay syndrome (disorder) {715988005 , SNOMED-CT } Caveolin 3 related distal myopathy (disorder) {711265009 , SNOMED-CT } Centrofacial lentiginosis syndrome (disorder) {18822004 , SNOMED-CT } Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder) {720634003 , SNOMED-CT } Cerebrooculonasal syndrome (disorder) {720855003 , SNOMED-CT } Charcot-Marie-Tooth disease, type I (disorder) {398040009 , SNOMED-CT } Childhood-onset autosomal dominant optic atrophy (disorder) {838307002 , SNOMED-CT } Choanal atresia with radial ray hypoplasia (disorder) {232373003 , SNOMED-CT } Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome (disorder) {719098007 , SNOMED-CT } Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) {785727000 , SNOMED-CT } Chronic respiratory distress with surfactant metabolism deficiency (disorder) {783182004 , SNOMED-CT } Cleft palate with short stature and vertebral anomaly syndrome (disorder) {719466009 , SNOMED-CT } Cleft palate, large ears, small head syndrome (disorder) {763130006 , SNOMED-CT } Cleidocranial dysostosis (disorder) {65976001 , SNOMED-CT } Cleidorhizomelic syndrome (disorder) {719471002 , SNOMED-CT } Cochleosaccular degeneration and cataract syndrome (disorder) {715528001 , SNOMED-CT } Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) {778060000 , SNOMED-CT } Coloboma of macula with brachydactyly type B syndrome (disorder) {717785002 , SNOMED-CT } Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome (disorder) {776204008 , SNOMED-CT } Congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland (disorder) {715656004 , SNOMED-CT } Congenital blue dot cataract (disorder) {204138006 , SNOMED-CT } Congenital contractural arachnodactyly (disorder) {205821003 , SNOMED-CT } Congenital dyserythropoietic anemia type IV (disorder) {719453009 , SNOMED-CT } Congenital dyserythropoietic anemia, type III (disorder) {26409005 , SNOMED-CT } Congenital hereditary endothelial dystrophy type 1 (disorder) {416633008 , SNOMED-CT } Congenital Horner syndrome (disorder) {770626007 , SNOMED-CT } Congenital muscular dystrophy due to lamin A/C mutation (disorder) {771272007 , SNOMED-CT } Congenital myopathy with internal nuclei and atypical cores (disorder) {764945007 , SNOMED-CT } Congenital myotonia, autosomal dominant form (disorder) {57938005 , SNOMED-CT } Congenital reticular ichthyosiform erythroderma (disorder) {703504006 , SNOMED-CT } Congenital short costocoracoid ligament (disorder) {725101002 , SNOMED-CT } Congenital stromal corneal dystrophy (disorder) {702359002 , SNOMED-CT } Cooks syndrome (disorder) {720747002 , SNOMED-CT } Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome (disorder) {773577009 , SNOMED-CT } Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation (disorder) {784344009 , SNOMED-CT } Coxopodopatellar syndrome (disorder) {720752007 , SNOMED-CT } Cranio-cervical dystonia with laryngeal and upper limb involvement (disorder) {783179009 , SNOMED-CT } Craniofacial conodysplasia syndrome (disorder) {720754008 , SNOMED-CT } Craniofacial deafness hand syndrome (disorder) {702362004 , SNOMED-CT } Craniosynostosis Boston type (disorder) {720817008 , SNOMED-CT } Craniosynostosis Philadelphia type (disorder) {720818003 , SNOMED-CT } Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) {720813007 , SNOMED-CT } Crouzon syndrome with acanthosis nigricans (disorder) {702361006 , SNOMED-CT } Cryptomicrotia brachydactyly syndrome (disorder) {725096002 , SNOMED-CT } Curly hair, acral keratoderma, caries syndrome (disorder) {763686007 , SNOMED-CT } Currarino triad (disorder) {413936007 , SNOMED-CT } Cutis gyrata syndrome of Beare and Stevenson (disorder) {703528008 , SNOMED-CT } Cutis laxa, autosomal dominant (disorder) {111388003 , SNOMED-CT } Cyprus facial neuromusculoskeletal syndrome (disorder) {732261005 , SNOMED-CT } Czech dysplasia metatarsal type (disorder) {720826006 , SNOMED-CT } Dacryocystitis and osteopoikilosis syndrome (disorder) {721082002 , SNOMED-CT } Darier disease (disorder) {48611009 , SNOMED-CT } Deafness craniofacial syndrome (disorder) {716245003 , SNOMED-CT } Deafness with malformation of ear and facial palsy syndrome (disorder) {716243005 , SNOMED-CT } Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) {773664005 , SNOMED-CT } Deficiency of nudix hydrolase 15 (disorder) {781386002 , SNOMED-CT } Deficiency of phosphoserine aminotransferase (disorder) {718603002 , SNOMED-CT } Dentatorubropallidoluysian degeneration (disorder) {68116008 , SNOMED-CT } Dentin dysplasia with sclerotic bone syndrome (disorder) {770943008 , SNOMED-CT } Dentin dysplasia, type II (disorder) {109494000 , SNOMED-CT } Dentinogenesis imperfecta - Shield's type II (disorder) {234969005 , SNOMED-CT } Dermo-odonto dysplasia (disorder) {721091003 , SNOMED-CT } Desmin-related myofibrillar myopathy (disorder) {770627003 , SNOMED-CT } Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) {787093004 , SNOMED-CT } Developmental malformation, deafness, dystonia syndrome (disorder) {721092005 , SNOMED-CT } Diffuse palmoplantar keratoderma and acrocyanosis syndrome (disorder) {721096008 , SNOMED-CT } Diffuse palmoplantar keratoderma with painful fissures (disorder) {778062008 , SNOMED-CT } Dislocation of hip and facial dysmorphism syndrome (disorder) {763755009 , SNOMED-CT } Distal arthrogryposis type 1 (disorder) {715314008 , SNOMED-CT } Distal hereditary motor neuropathy type 1 (disorder) {770630005 , SNOMED-CT } Distal hereditary motor neuropathy type 7 (disorder) {771081007 , SNOMED-CT } Distal myopathy 2 (disorder) {702383005 , SNOMED-CT } Distal myopathy Welander type (disorder) {726107008 , SNOMED-CT } Distal myopathy with posterior leg and anterior hand involvement (disorder) {733489002 , SNOMED-CT } Distichiasis-lymphedema syndrome (disorder) {8634009 , SNOMED-CT } DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome (disorder) {783057002 , SNOMED-CT } Dominant autosomal hereditary disorder, complete penetrance (disorder) {86426007 , SNOMED-CT } Dominant autosomal hereditary disorder, incomplete penetrance (disorder) {87006007 , SNOMED-CT } Dominant beta-thalassemia (disorder) {716682000 , SNOMED-CT } Dominant drusen (disorder) {193411004 , SNOMED-CT } Dominant hereditary optic atrophy (disorder) {2065009 , SNOMED-CT } Doughnut lesion of calvaria and bone fragility syndrome (disorder) {720598005 , SNOMED-CT } Drash syndrome (disorder) {236385009 , SNOMED-CT } Dyschondrosteosis and nephritis syndrome (disorder) {722433005 , SNOMED-CT } Dysplasia epiphysealis hemimelica (disorder) {205480005 , SNOMED-CT } Dystonia aphonia syndrome (disorder) {782718007 , SNOMED-CT } Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) {770431001 , SNOMED-CT } East Texas bleeding disorder (disorder) {773422002 , SNOMED-CT } Ectodermal dysplasia trichoodontoonychial type (disorder) {734018003 , SNOMED-CT } Ectodermal dysplasia with natal teeth Turnpenny type (disorder) {715576000 , SNOMED-CT } Edinburgh malformation syndrome (disorder) {771178004 , SNOMED-CT } Ehlers-Danlos and osteogenesis imperfecta syndrome (disorder) {733457006 , SNOMED-CT } Ehlers-Danlos syndrome classic type (disorder) {715318006 , SNOMED-CT } Emberger syndrome (disorder) {700057001 , SNOMED-CT } Emery Nelson syndrome (disorder) {773768000 , SNOMED-CT } Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) {722439009 , SNOMED-CT } Enlarged parietal foramina (disorder) {718099006 , SNOMED-CT } Episodic ataxia (disorder) {421455009 , SNOMED-CT } Epithelial recurrent erosion dystrophy of cornea (disorder) {715908008 , SNOMED-CT } Erythema palmare hereditarium (disorder) {763767006 , SNOMED-CT } Exercise-induced hyperinsulinism (disorder) {715830008 , SNOMED-CT } Extensor tendons of finger anomalies (disorder) {782937006 , SNOMED-CT } External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) {783774006 , SNOMED-CT } Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) {771179007 , SNOMED-CT } Facial dysmorphism, conductive hearing loss, heart defect syndrome (disorder) {763279007 , SNOMED-CT } Familial acute necrotizing encephalopathy (disorder) {723359002 , SNOMED-CT } Familial advanced sleep phase syndrome (disorder) {715829003 , SNOMED-CT } Familial Alzheimer-like prion disease (disorder) {721219005 , SNOMED-CT } Familial amyloid nephropathy with urticaria AND deafness (disorder) {15123008 , SNOMED-CT } Familial amyloid polyneuropathy (disorder) {42295001 , SNOMED-CT } Familial avascular necrosis of head of femur (disorder) {715657008 , SNOMED-CT } Familial benign pemphigus (disorder) {79468000 , SNOMED-CT } Familial bicuspid aortic valve (disorder) {770435005 , SNOMED-CT } Familial caudal dysgenesis (disorder) {722493007 , SNOMED-CT } Familial cold urticaria (disorder) {238687000 , SNOMED-CT } Familial Creutzfeldt-Jakob (disorder) {715807002 , SNOMED-CT } Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) {782823001 , SNOMED-CT } Familial dementia British type (disorder) {783161005 , SNOMED-CT } Familial dementia Danish type (disorder) {783258000 , SNOMED-CT } Familial developmental dysphasia (disorder) {721220004 , SNOMED-CT } Familial digital arthropathy and brachydactyly syndrome (disorder) {717192003 , SNOMED-CT } Familial dilated cardiomyopathy with conduction defect due to lamin A/C mutation (disorder) {766883006 , SNOMED-CT } Familial dyskeratotic comedones (disorder) {254219004 , SNOMED-CT } Familial dyskinesia and facial myokymia (disorder) {763352005 , SNOMED-CT } Familial encephalopathy with neuroserpin inclusion bodies (disorder) {702421006 , SNOMED-CT } Familial episodic pain syndrome (disorder) {782756008 , SNOMED-CT } Familial focal epilepsy with variable foci (disorder) {764522009 , SNOMED-CT } Familial generalized lentiginosis (disorder) {765195000 , SNOMED-CT } Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) {699861000 , SNOMED-CT } Familial hemiplegic migraine (disorder) {95656000 , SNOMED-CT } Familial hyperprolactinemia (disorder) {763715007 , SNOMED-CT } Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder) {716743006 , SNOMED-CT } Familial hypodontia (disorder) {109447008 , SNOMED-CT } Familial isolated arrhythmogenic right ventricular dysplasia (disorder) {715865008 , SNOMED-CT } Familial isolated congenital asplenia (disorder) {726708009 , SNOMED-CT } Familial isolated hyperparathyroidism (disorder) {786037006 , SNOMED-CT } Familial isolated pituitary adenoma (disorder) {702375004 , SNOMED-CT } Familial male-limited precocious puberty (disorder) {725295005 , SNOMED-CT } Familial multiple benign meningioma (disorder) {765202001 , SNOMED-CT } Familial myoclonus of cerebral cortex (disorder) {763770005 , SNOMED-CT } Familial omphalocele syndrome with facial dysmorphism (disorder) {770900000 , SNOMED-CT } Familial osteochondritis dissecans (disorder) {715899006 , SNOMED-CT } Familial partial lipodystrophy Kobberling type (disorder) {725035001 , SNOMED-CT } Familial partial lipodystrophy type 2 (disorder) {715439000 , SNOMED-CT } Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder) {725034002 , SNOMED-CT } Familial porphyria cutanea tarda (disorder) {59229005 , SNOMED-CT } Familial progressive hyperpigmentation (disorder) {715630006 , SNOMED-CT } Familial progressive hyperpigmentation and hypopigmentation of skin (disorder) {763368004 , SNOMED-CT } Familial scaphocephaly syndrome McGillivray type (disorder) {725030006 , SNOMED-CT } Familial Scheuermann disease (disorder) {725411000 , SNOMED-CT } Familial spontaneous pneumothorax (disorder) {715219001 , SNOMED-CT } Familial thoracic aortic aneurysm and aortic dissection (disorder) {764965000 , SNOMED-CT } Familial vesicoureteral reflux (disorder) {763716008 , SNOMED-CT } Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) {778008009 , SNOMED-CT } Fibronectin glomerulopathy (disorder) {818952002 , SNOMED-CT } Finnish upper limb onset distal myopathy (disorder) {763718009 , SNOMED-CT } Flat face, microstomia, ear anomaly syndrome (disorder) {773750003 , SNOMED-CT } Floating-Harbor syndrome (disorder) {312214005 , SNOMED-CT } Focal facial dermal dysplasia type I (disorder) {789157007 , SNOMED-CT } Focal facial dermal dysplasia type II (disorder) {789159005 , SNOMED-CT } Focal palmoplantar and gingival keratoderma (disorder) {764963007 , SNOMED-CT } Focal palmoplantar keratoderma with joint keratoses (disorder) {778051008 , SNOMED-CT } Foveal hypoplasia with presenile cataract syndrome (disorder) {778042000 , SNOMED-CT } FOXG1 syndrome (disorder) {702450004 , SNOMED-CT } Frontotemporal dementia with gene located on 3p11 (disorder) {702393003 , SNOMED-CT } Frontotemporal dementia with parkinsonism-17 (disorder) {702429008 , SNOMED-CT } Gastric adenocarcinoma and proximal polyposis of stomach (disorder) {771474005 , SNOMED-CT } Gastrocutaneous syndrome (disorder) {782946000 , SNOMED-CT } Generalized basaloid follicular hamartoma syndrome (disorder) {766928004 , SNOMED-CT } Generalized epilepsy and paroxysmal dyskinesia syndrome (disorder) {715629001 , SNOMED-CT } Genitopatellar syndrome (disorder) {702367005 , SNOMED-CT } Genochondromatosis type 2 (disorder) {725904009 , SNOMED-CT } Gingival fibromatosis and hypertrichosis syndrome (disorder) {716008002 , SNOMED-CT } Gingival fibromatosis with progressive deafness syndrome (disorder) {722449007 , SNOMED-CT } Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) {722450007 , SNOMED-CT } Glomuvenous malformation (disorder) {715644000 , SNOMED-CT } Glucose transporter protein type 1 deficiency syndrome (disorder) {445252005 , SNOMED-CT } Gnathodiaphyseal dysplasia syndrome (disorder) {715568002 , SNOMED-CT } Goniodysgenesis with intellectual disability and short stature syndrome (disorder) {716024001 , SNOMED-CT } Gorlin syndrome (disorder) {69408002 , SNOMED-CT } Grant syndrome (disorder) {723827003 , SNOMED-CT } Granular corneal dystrophy (disorder) {45283008 , SNOMED-CT } Grayson Wilbrandt dystrophy of cornea (disorder) {717286002 , SNOMED-CT } GRN-related frontotemporal dementia (disorder) {702426001 , SNOMED-CT } Guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification (disorder) {711154007 , SNOMED-CT } Hand-foot-genital syndrome (disorder) {702425002 , SNOMED-CT } Hawkinsinuria (disorder) {414380008 , SNOMED-CT } Heart-hand syndrome Slovenian type (disorder) {721014007 , SNOMED-CT } Helicoid peripapillary chorioretinal degeneration (disorder) {724384008 , SNOMED-CT } Hemifacial hyperplasia strabismus syndrome (disorder) {733046006 , SNOMED-CT } Hemoglobinopathy Toms River (disorder) {782880001 , SNOMED-CT } Hereditary angioedema with normal C1 esterase inhibitor activity (disorder) {427167008 , SNOMED-CT } Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome (disorder) {702428000 , SNOMED-CT } Hereditary benign acanthosis nigricans (disorder) {205583005 , SNOMED-CT } Hereditary benign intraepithelial dyskeratosis (disorder) {400014002 , SNOMED-CT } Hereditary breast and ovarian cancer syndrome (disorder) {718220008 , SNOMED-CT } Hereditary C1 esterase inhibitor deficiency - deficient factor (disorder) {234619000 , SNOMED-CT } Hereditary C1 esterase inhibitor deficiency - dysfunctional factor (disorder) {234620006 , SNOMED-CT } Hereditary camptodactyly (disorder) {238855000 , SNOMED-CT } Hereditary cavernous hemangioma of brain (disorder) {717003001 , SNOMED-CT } Hereditary cerebral hemorrhage with amyloidosis (disorder) {724357007 , SNOMED-CT } Hereditary diffuse carcinoma of stomach (disorder) {716859000 , SNOMED-CT } Hereditary diffuse leukoencephalopathy with spheroids (disorder) {702427005 , SNOMED-CT } Hereditary elliptocytosis due to abnormal protein 4.1 (disorder) {75443009 , SNOMED-CT } Hereditary elliptocytosis due to alpha spectrin defect (disorder) {8857001 , SNOMED-CT } Hereditary elliptocytosis due to beta spectrin defect in self-association (disorder) {73073009 , SNOMED-CT } Hereditary elliptocytosis due to deficiency of protein 4.1 (disorder) {5994005 , SNOMED-CT } Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder) {771306007 , SNOMED-CT } Hereditary gelsolin amyloidosis (disorder) {783160006 , SNOMED-CT } Hereditary geniospasm (disorder) {718103001 , SNOMED-CT } Hereditary hollow viscus myopathy (disorder) {63684002 , SNOMED-CT } Hereditary hypercarotenemia and vitamin A deficiency (disorder) {726079008 , SNOMED-CT } Hereditary hypotrichosis simplex of scalp (disorder) {717256009 , SNOMED-CT } Hereditary inclusion body myopathy type 4 (disorder) {770786001 , SNOMED-CT } Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) {724349009 , SNOMED-CT } Hereditary keratoacanthoma (disorder) {716774008 , SNOMED-CT } Hereditary lymphedema and yellow nails (disorder) {400211001 , SNOMED-CT } Hereditary lymphedema type I (disorder) {399889006 , SNOMED-CT } Hereditary lymphedema type II (disorder) {400040008 , SNOMED-CT } Hereditary mixed polyposis syndrome (disorder) {787410005 , SNOMED-CT } Hereditary motor and sensory neuropathy Okinawa type (disorder) {715665006 , SNOMED-CT } Hereditary motor and sensory neuropathy type 5 (disorder) {771143004 , SNOMED-CT } Hereditary myopathy with early respiratory failure (disorder) {702373006 , SNOMED-CT } Hereditary nephrogenic diabetes insipidus (disorder) {61165007 , SNOMED-CT } Hereditary neurocutaneous angiomata (disorder) {403775003 , SNOMED-CT } Hereditary nonpolyposis colon cancer (disorder) {315058005 , SNOMED-CT } Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder) {44641000 , SNOMED-CT } Hereditary oculoleptomeningeal amyloid angiopathy (disorder) {43532007 , SNOMED-CT } Hereditary papillary renal cell carcinoma (disorder) {715561008 , SNOMED-CT } Hereditary persistence of alpha-fetoprotein (disorder) {716697002 , SNOMED-CT } Hereditary pheochromocytoma and paraganglioma (disorder) {716857003 , SNOMED-CT } Hereditary progressive mucinous histiocytosis (disorder) {771300001 , SNOMED-CT } Hereditary sensorimotor neuropathy with hyperelastic skin (disorder) {782881002 , SNOMED-CT } Hereditary sensory and autonomic neuropathy type 1B (disorder) {717825008 , SNOMED-CT } Hereditary sensory and autonomic neuropathy type 7 (disorder) {783550006 , SNOMED-CT } Hereditary sensory autonomic neuropathy type IA (disorder) {860813007 , SNOMED-CT } Hereditary sensory autonomic neuropathy type IC (disorder) {860814001 , SNOMED-CT } Hereditary sensory autonomic neuropathy type ID (disorder) {860811009 , SNOMED-CT } Hereditary sensory autonomic neuropathy type IE (disorder) {860812002 , SNOMED-CT } Hereditary site-specific ovarian cancer syndrome (disorder) {771080008 , SNOMED-CT } Hereditary stomatocytosis (disorder) {14087004 , SNOMED-CT } Hereditary systemic amyloidosis (disorder) {107311000119104 , SNOMED-CT } Hereditary thermosensitive neuropathy (disorder) {715645004 , SNOMED-CT } Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency (disorder) {783250007 , SNOMED-CT } Hereditary von Willebrand disease type 2B (disorder) {359717002 , SNOMED-CT } Hereditary von Willebrand disease type 2M (disorder) {359725000 , SNOMED-CT } Heritable pulmonary arterial hypertension due to bone morphogenetic protein receptor type II mutation (disorder) {697899000 , SNOMED-CT } Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) {771239007 , SNOMED-CT } Hidrotic ectodermal dysplasia syndrome (disorder) {54209007 , SNOMED-CT } High bone mass osteogenesis imperfecta (disorder) {782781006 , SNOMED-CT } Hip dysplasia Beukes type (disorder) {721148005 , SNOMED-CT } Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) {719041000 , SNOMED-CT } Holt-Oram syndrome (disorder) {19092004 , SNOMED-CT } Hot water reflex epilepsy (disorder) {763534009 , SNOMED-CT } Hunter McAlpine craniosynostosis syndrome (disorder) {721227001 , SNOMED-CT } Huntington disease-like 1 (disorder) {784371009 , SNOMED-CT } Huntington disease-like 2 (disorder) {721228006 , SNOMED-CT } Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder) {782743001 , SNOMED-CT } Huntington's chorea (disorder) {58756001 , SNOMED-CT } Hyaline dystrophy of Bruch's membrane (disorder) {36524008 , SNOMED-CT } Hydrocephalus with cleft palate and joint contracture syndrome (disorder) {718576001 , SNOMED-CT } Hyperferritinemia cataract syndrome (disorder) {702398007 , SNOMED-CT } Hyperinsulinism and hyperammonemia syndrome (disorder) {718106009 , SNOMED-CT } Hyperinsulinism due to deficiency of glucokinase (disorder) {717182006 , SNOMED-CT } Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder) {721234004 , SNOMED-CT } Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder) {717048002 , SNOMED-CT } Hyperinsulinism due to insulin receptor deficiency (disorder) {721235003 , SNOMED-CT } Hyperinsulinism due to uncoupling protein 2 deficiency (disorder) {721834007 , SNOMED-CT } Hyperparathyroidism-jaw tumor syndrome (disorder) {702378002 , SNOMED-CT } Hypertelorism Teebi type (disorder) {724284005 , SNOMED-CT } Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) {773667003 , SNOMED-CT } Hypertension due to gain-of-function mutation in mineralocorticoid receptor (disorder) {766937004 , SNOMED-CT } Hypertrichosis cubiti (disorder) {771181009 , SNOMED-CT } Hyperuricemia, anemia, renal failure syndrome (disorder) {721840000 , SNOMED-CT } Hyperzincemia and hypercalprotectinemia (disorder) {771339005 , SNOMED-CT } Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) {721842008 , SNOMED-CT } Hypoinsulinemic hypoglycemia and body hemihypertrophy (disorder) {773666007 , SNOMED-CT } Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) {724283004 , SNOMED-CT } Hypoparathyroidism, deafness, renal disease syndrome (disorder) {724282009 , SNOMED-CT } Hypotrichosis and deafness syndrome (disorder) {783555001 , SNOMED-CT } Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder) {703544004 , SNOMED-CT } Infundibulopelvic stenosis multicystic kidney syndrome (disorder) {725905005 , SNOMED-CT } Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) {726709001 , SNOMED-CT } Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome (disorder) {773581009 , SNOMED-CT } Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) {782736007 , SNOMED-CT } Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome (disorder) {702384004 , SNOMED-CT } Iris coloboma with ptosis, hypertelorism, and mental retardation (disorder) {702410002 , SNOMED-CT } Isolated autosomal dominant hypomagnesemia Glaudemans type (disorder) {722008003 , SNOMED-CT } Isolated congenital adermatoglyphia (disorder) {763748007 , SNOMED-CT } Isolated cryptophthalmos (disorder) {718691008 , SNOMED-CT } Isolated optic nerve hypoplasia (disorder) {724999003 , SNOMED-CT } Jackson-Weiss syndrome (disorder) {709105005 , SNOMED-CT } Johnson neuroectodermal syndrome (disorder) {721584005 , SNOMED-CT } Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) {722457005 , SNOMED-CT } Juvenile epithelial corneal dystrophy (disorder) {1674008 , SNOMED-CT } Karsch Neugebauer syndrome (disorder) {722032005 , SNOMED-CT } Kelch like family member 9 related early-onset distal myopathy (disorder) {763776004 , SNOMED-CT } King Denborough syndrome (disorder) {764957003 , SNOMED-CT } Kleefstra syndrome (disorder) {724207001 , SNOMED-CT } Koolen De Vries syndrome (disorder) {717338006 , SNOMED-CT } Kozlowski spondylometaphyseal dysplasia (disorder) {111304003 , SNOMED-CT } Laing early-onset distal myopathy (disorder) {764859001 , SNOMED-CT } Lamin A/C related cardiocutaneous progeria syndrome (disorder) {773426004 , SNOMED-CT } Larsen syndrome (disorder) {63387002 , SNOMED-CT } Late-onset distal myopathy Markesbery Griggs type (disorder) {770558006 , SNOMED-CT } Lattice corneal dystrophy (disorder) {361199007 , SNOMED-CT } Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome (disorder) {773700005 , SNOMED-CT } Li-Fraumeni syndrome (disorder) {428850001 , SNOMED-CT } Limb mammary syndrome (disorder) {721972001 , SNOMED-CT } Lissencephaly due to tubulin alpha 1A mutation (disorder) {718759003 , SNOMED-CT } Loeys-Dietz syndrome (disorder) {446263001 , SNOMED-CT } Long thumb brachydactyly syndrome (disorder) {733454004 , SNOMED-CT } Lower motor neuron syndrome with late-adult onset (disorder) {783618006 , SNOMED-CT } Lowry MacLean syndrome (disorder) {721974000 , SNOMED-CT } Lymphedema and cerebral arteriovenous anomaly syndrome (disorder) {721979005 , SNOMED-CT } Lynch syndrome (disorder) {716318002 , SNOMED-CT } Macrocephaly, intellectual disability, autism syndrome (disorder) {783089006 , SNOMED-CT } Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) {723366001 , SNOMED-CT } Mammary digital nail syndrome (disorder) {718679004 , SNOMED-CT } Mandibular hypoplasia, deafness, progeroid syndrome (disorder) {773406003 , SNOMED-CT } Marfan's syndrome (disorder) {19346006 , SNOMED-CT } Marie Unna syndrome (disorder) {254234005 , SNOMED-CT } Marshall-Smith syndrome (disorder) {73284007 , SNOMED-CT } Maternal riboflavin deficiency (disorder) {773549000 , SNOMED-CT } May-Hegglin anomaly (disorder) {234484005 , SNOMED-CT } Median nodule of upper lip (disorder) {722034006 , SNOMED-CT } Melanoma and neural system tumor syndrome (disorder) {717968005 , SNOMED-CT } Melnick-Fraser syndrome (disorder) {290006 , SNOMED-CT } Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder) {723385003 , SNOMED-CT } Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency (disorder) {723386002 , SNOMED-CT } Mesomelic dysplasia Kantaputra type (disorder) {719397009 , SNOMED-CT } Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) {715472000 , SNOMED-CT } Metabolic myopathy due to lactate transporter defect (disorder) {766715000 , SNOMED-CT } Metachondromatosis (disorder) {205481009 , SNOMED-CT } Metaphyseal dysplasia Braun Tinschert type (disorder) {717221005 , SNOMED-CT } Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) {724145007 , SNOMED-CT } Microcephalus, lymphedema, chorioretinopathy syndrome (disorder) {733604003 , SNOMED-CT } Microcephaly with deafness and intellectual disability syndrome (disorder) {716112005 , SNOMED-CT } Microcephaly-oculo-digito-esophageal-duodenal syndrome (disorder) {702431004 , SNOMED-CT } Microcornea with glaucoma and absent frontal sinus syndrome (disorder) {716166002 , SNOMED-CT } Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder) {771342004 , SNOMED-CT } Microphthalmia with brain and digit anomaly (disorder) {721878003 , SNOMED-CT } Microspherophakia with metaphyseal dysplasia syndrome (disorder) {724140002 , SNOMED-CT } Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) {724139004 , SNOMED-CT } Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) {715670004 , SNOMED-CT } Mirror hands and feet co-occurrent with nasal defect (disorder) {715440003 , SNOMED-CT } Moebius syndrome (disorder) {766987006 , SNOMED-CT } Mowat-Wilson syndrome (disorder) {703535000 , SNOMED-CT } Muenke syndrome (disorder) {787407003 , SNOMED-CT } Mullerian aplasia (disorder) {253828000 , SNOMED-CT } Mullerian duct and limb anomalies syndrome (disorder) {716111003 , SNOMED-CT } Multicentric carpotarsal osteolysis syndrome (disorder) {766992008 , SNOMED-CT } Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus (disorder) {723408004 , SNOMED-CT } Multiple congenital exostosis (disorder) {254044004 , SNOMED-CT } Multiple endocrine neoplasia, type 3 (disorder) {61530001 , SNOMED-CT } Multiple epiphyseal dysplasia Beighton type (disorder) {719689005 , SNOMED-CT } Multiple epiphyseal dysplasia due to collagen 9 anomaly (disorder) {766717008 , SNOMED-CT } Multiple epiphyseal dysplasia type 1 (disorder) {715673002 , SNOMED-CT } Multiple epiphyseal dysplasia type 5 (disorder) {715674008 , SNOMED-CT } Multiple fibrofolliculomas (disorder) {110985001 , SNOMED-CT } Multiple lentigines syndrome (disorder) {111306001 , SNOMED-CT } Multiple osteochondroma of long bone (disorder) {716742001 , SNOMED-CT } Multisystemic smooth muscle dysfunction syndrome (disorder) {782724001 , SNOMED-CT } Muscle filaminopathy (disorder) {764992006 , SNOMED-CT } Muscular dystrophy Selcen type (disorder) {723407009 , SNOMED-CT } Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome (disorder) {773584001 , SNOMED-CT } Myhre syndrome (disorder) {699316006 , SNOMED-CT } Myoclonus, cerebellar ataxia, deafness syndrome (disorder) {733065003 , SNOMED-CT } Myosin heavy chain 9 non muscle related disease (disorder) {712922002 , SNOMED-CT } Nail-patella syndrome (disorder) {22199006 , SNOMED-CT } Nasopalpebral lipoma coloboma syndrome (disorder) {723411003 , SNOMED-CT } Neurofibromatosis type 1 (disorder) {92824003 , SNOMED-CT } Neurofibromatosis type 1-like syndrome (disorder) {703541007 , SNOMED-CT } Neurofibromatosis type 2 (disorder) {92503002 , SNOMED-CT } Nicolaides-Baraitser syndrome (disorder) {401046009 , SNOMED-CT } NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder) {783146009 , SNOMED-CT } Non-hypoproteinemic hypertrophic gastropathy (disorder) {773397000 , SNOMED-CT } Non-progressive cerebellar ataxia with intellectual disability (disorder) {723441001 , SNOMED-CT } Nonspherocytic hemolytic anemia due to deficiency of adenosinetriphosphatase (disorder) {725057008 , SNOMED-CT } Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (disorder) {783143001 , SNOMED-CT } Noonan syndrome-like disorder with loose anagen hair (disorder) {723444009 , SNOMED-CT } Noonan's syndrome (disorder) {205824006 , SNOMED-CT } Occult macular dystrophy (disorder) {770667002 , SNOMED-CT } Oculodental syndrome (disorder) {699754008 , SNOMED-CT } Oculootoradial syndrome (disorder) {722019000 , SNOMED-CT } Odonto-tricho-ungual-digito-palmar syndrome (disorder) {722063009 , SNOMED-CT } Oligodontia and cancer predisposition syndrome (disorder) {773345007 , SNOMED-CT } Optic nerve edema, splenomegaly syndrome (disorder) {771471002 , SNOMED-CT } Osler hemorrhagic telangiectasia syndrome (disorder) {21877004 , SNOMED-CT } Osteocraniostenosis (disorder) {722109008 , SNOMED-CT } Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome (disorder) {733064004 , SNOMED-CT } Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder) {722117000 , SNOMED-CT } Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder) {722122000 , SNOMED-CT } Palmoplantar keratoderma with clinodactyly syndrome (disorder) {724224007 , SNOMED-CT } Palmoplantar keratoderma with deafness syndrome (disorder) {722203001 , SNOMED-CT } Palmoplantar keratoderma, spastic paralysis syndrome (disorder) {785725008 , SNOMED-CT } Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) {722206009 , SNOMED-CT } Pancytopenia due to IKAROS family zinc finger 1 mutations (disorder) {783142006 , SNOMED-CT } Paraganglioma and gastric stromal sarcoma syndrome (disorder) {722377004 , SNOMED-CT } Parastremmatic dwarfism (disorder) {722210007 , SNOMED-CT } Parietal foramina with clavicular hypoplasia (disorder) {771338002 , SNOMED-CT } Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity (disorder) {715564000 , SNOMED-CT } Paroxysmal extreme pain disorder (disorder) {699190008 , SNOMED-CT } Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (disorder) {703534001 , SNOMED-CT } Patterson Stevenson Fontaine syndrome (disorder) {724069009 , SNOMED-CT } Pelvis shoulder dysplasia (disorder) {719298001 , SNOMED-CT } Perilipin 1 related familial partial lipodystrophy (disorder) {783616005 , SNOMED-CT } Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) {765325002 , SNOMED-CT } Peripheral dysostosis (disorder) {773985008 , SNOMED-CT } Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) {723497003 , SNOMED-CT } Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome (disorder) {782752005 , SNOMED-CT } Peripheral resistance to thyroid hormone (disorder) {718193005 , SNOMED-CT } Peutz-Jeghers syndrome (disorder) {54411001 , SNOMED-CT } Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction (disorder) {237612000 , SNOMED-CT } Piebald trait with neurologic defects syndrome (disorder) {773984007 , SNOMED-CT } Piebaldism (disorder) {718122005 , SNOMED-CT } Pitt-Hopkins syndrome (disorder) {702344008 , SNOMED-CT } Pleuropulmonary blastoma family tumor susceptibility syndrome (disorder) {702411003 , SNOMED-CT } Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) {771186004 , SNOMED-CT } Polydactyly myopia syndrome (disorder) {733087007 , SNOMED-CT } Polydactyly of biphalangeal thumb (disorder) {725409009 , SNOMED-CT } Polydactyly of index finger (disorder) {723446006 , SNOMED-CT } Polydactyly of triphalangeal thumb (disorder) {715710001 , SNOMED-CT } Polyvalvular heart disease syndrome (disorder) {723448007 , SNOMED-CT } Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome (disorder) {763866005 , SNOMED-CT } Postaxial tetramelic oligodactyly (disorder) {770946000 , SNOMED-CT } Posterior amorphous corneal dystrophy (disorder) {719296002 , SNOMED-CT } Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) {724064004 , SNOMED-CT } Potassium aggravated myotonia (disorder) {702355008 , SNOMED-CT } Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) {778001003 , SNOMED-CT } Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) {722452004 , SNOMED-CT } Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder) {789063000 , SNOMED-CT } Primary pigmented nodular adrenocortical disease (disorder) {719274008 , SNOMED-CT } Prion protein systemic amyloidosis (disorder) {733422008 , SNOMED-CT } Progressive bifocal chorioretinal atrophy (disorder) {719266007 , SNOMED-CT } Progressive myoclonic epilepsy type 5 (disorder) {783055005 , SNOMED-CT } Progressive myositis ossificans (disorder) {82725007 , SNOMED-CT } Progressive osseous heteroplasia (disorder) {719271000 , SNOMED-CT } Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome (disorder) {719272007 , SNOMED-CT } Protein kinase cAMP-dependent type I regulatory subunit beta-related neurodegenerative dementia with intermediate filaments (disorder) {774069007 , SNOMED-CT } Proximal myotonic myopathy (disorder) {715317001 , SNOMED-CT } Pseudo von Willebrand disease (disorder) {128115005 , SNOMED-CT } Pseudohypoaldosteronism, type 1, dominant form (disorder) {85880000 , SNOMED-CT } Pseudohypoparathyroidism type 1C (disorder) {717792007 , SNOMED-CT } Pseudohypoparathyroidism type I A (disorder) {58833000 , SNOMED-CT } Pseudoprimary hyperaldosteronism (disorder) {707747007 , SNOMED-CT } PTEN hamartoma tumor syndrome (disorder) {722859001 , SNOMED-CT } Ptosis and vocal cord paralysis syndrome (disorder) {771263004 , SNOMED-CT } Ptosis, strabismus, ectopic pupil syndrome (disorder) {726619004 , SNOMED-CT } Punctate palmoplantar keratoderma type 1 (disorder) {717184007 , SNOMED-CT } Punctate palmoplantar keratoderma type 2 (disorder) {765096001 , SNOMED-CT } Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder) {724015007 , SNOMED-CT } Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) {716092007 , SNOMED-CT } Radio-renal syndrome (disorder) {766765009 , SNOMED-CT } Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) {721882001 , SNOMED-CT } Ramos Arroyo syndrome (disorder) {723504000 , SNOMED-CT } Rapid onset dystonia parkinsonism (disorder) {702323008 , SNOMED-CT } Reis-Bucklers' corneal dystrophy (disorder) {231930000 , SNOMED-CT } Renal coloboma syndrome (disorder) {446449009 , SNOMED-CT } Reticular dystrophy of retinal pigment epithelium (disorder) {723502001 , SNOMED-CT } Reticulate acropigmentation of Kitamura (disorder) {239133004 , SNOMED-CT } Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies (disorder) {774152007 , SNOMED-CT } Retinal macular dystrophy type 2 (disorder) {770594005 , SNOMED-CT } Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (disorder) {783787000 , SNOMED-CT } Rhabdoid tumor predisposition syndrome (disorder) {772130002 , SNOMED-CT } Ring dermoid of cornea (disorder) {723499000 , SNOMED-CT } Roch Leri mesosomatous lipomatosis (disorder) {716772007 , SNOMED-CT } Rombo syndrome (disorder) {721904001 , SNOMED-CT } Roussy-Lévy syndrome (disorder) {45853006 , SNOMED-CT } Scalp defect postaxial polydactyly syndrome (disorder) {726629006 , SNOMED-CT } Scalp, ear, nipple syndrome (disorder) {721888002 , SNOMED-CT } Schilbach Rott syndrome (disorder) {721902002 , SNOMED-CT } Schnyder crystalline cornea dystrophy (disorder) {419395007 , SNOMED-CT } Seborrhea-like dermatitis with psoriasiform elements (disorder) {782910009 , SNOMED-CT } Sensorineural deafness with dilated cardiomyopathy syndrome (disorder) {723993005 , SNOMED-CT } Sensorineural hearing loss, early graying, essential tremor syndrome (disorder) {723721007 , SNOMED-CT } Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) {699870002 , SNOMED-CT } Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder) {783556000 , SNOMED-CT } Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome (disorder) {773400009 , SNOMED-CT } Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) {773551001 , SNOMED-CT } Short fifth metacarpal insulin resistance syndrome (disorder) {721069005 , SNOMED-CT } Short stature locking fingers syndrome (disorder) {726734001 , SNOMED-CT } Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) {716090004 , SNOMED-CT } Short stature with valvular heart disease and characteristic facies syndrome (disorder) {716193004 , SNOMED-CT } Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) {721072003 , SNOMED-CT } Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder) {711156009 , SNOMED-CT } Short tarsus with absence of lower eyelashes syndrome (disorder) {721075001 , SNOMED-CT } Shprintzen Goldberg craniosynostosis syndrome (disorder) {719069008 , SNOMED-CT } Shprintzen Goldberg omphalocele syndrome (disorder) {716230005 , SNOMED-CT } Sodium channelopathy-related small fiber neuropathy (disorder) {782824007 , SNOMED-CT } SOX2 anophthalmia syndrome (disorder) {698851003 , SNOMED-CT } Spastic ataxia with congenital miosis (disorder) {763669001 , SNOMED-CT } Spastic paraplegia with Paget disease of bone syndrome (disorder) {726622002 , SNOMED-CT } Spastic paraplegia with precocious puberty syndrome (disorder) {732958004 , SNOMED-CT } Spastic paraplegia, nephritis, deafness syndrome (disorder) {733089005 , SNOMED-CT } Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) {763402002 , SNOMED-CT } Spheroid body myopathy (disorder) {765092004 , SNOMED-CT } Spinocerebellar ataxia type 1 (disorder) {715748006 , SNOMED-CT } Spinocerebellar ataxia type 10 (disorder) {715754007 , SNOMED-CT } Spinocerebellar ataxia type 11 (disorder) {719207000 , SNOMED-CT } Spinocerebellar ataxia type 12 (disorder) {719208005 , SNOMED-CT } Spinocerebellar ataxia type 13 (disorder) {719209002 , SNOMED-CT } Spinocerebellar ataxia type 14 (disorder) {719210007 , SNOMED-CT } Spinocerebellar ataxia type 15/16 (disorder) {716724006 , SNOMED-CT } Spinocerebellar ataxia type 17 (disorder) {719249005 , SNOMED-CT } Spinocerebellar ataxia type 18 (disorder) {719250005 , SNOMED-CT } Spinocerebellar ataxia type 19 (disorder) {719251009 , SNOMED-CT } Spinocerebellar ataxia type 2 (disorder) {715751004 , SNOMED-CT } Spinocerebellar ataxia type 20 (disorder) {718771009 , SNOMED-CT } Spinocerebellar ataxia type 21 (disorder) {718774001 , SNOMED-CT } Spinocerebellar ataxia type 23 (disorder) {718772002 , SNOMED-CT } Spinocerebellar ataxia type 25 (disorder) {718770005 , SNOMED-CT } Spinocerebellar ataxia type 26 (disorder) {718769009 , SNOMED-CT } Spinocerebellar ataxia type 27 (disorder) {719252002 , SNOMED-CT } Spinocerebellar ataxia type 28 (disorder) {715824008 , SNOMED-CT } Spinocerebellar ataxia type 29 (disorder) {715825009 , SNOMED-CT } Spinocerebellar ataxia type 30 (disorder) {719253007 , SNOMED-CT } Spinocerebellar ataxia type 31 (disorder) {715826005 , SNOMED-CT } Spinocerebellar ataxia type 32 (disorder) {719254001 , SNOMED-CT } Spinocerebellar ataxia type 34 (disorder) {719255000 , SNOMED-CT } Spinocerebellar ataxia type 35 (disorder) {719300001 , SNOMED-CT } Spinocerebellar ataxia type 36 (disorder) {711158005 , SNOMED-CT } Spinocerebellar ataxia type 37 (disorder) {719301002 , SNOMED-CT } Spinocerebellar ataxia type 38 (disorder) {734021001 , SNOMED-CT } Spinocerebellar ataxia type 4 (disorder) {715755008 , SNOMED-CT } Spinocerebellar ataxia type 40 (disorder) {734020000 , SNOMED-CT } Spinocerebellar ataxia type 5 (disorder) {719302009 , SNOMED-CT } Spinocerebellar ataxia type 6 (disorder) {715752006 , SNOMED-CT } Spinocerebellar ataxia type 7 (disorder) {715726000 , SNOMED-CT } Spinocerebellar ataxia type 8 (disorder) {715753001 , SNOMED-CT } Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) {726724005 , SNOMED-CT } Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) {732927000 , SNOMED-CT } Spondyloepimetaphyseal dysplasia Handigodu type (disorder) {763885008 , SNOMED-CT } Spondyloepimetaphyseal dysplasia Missouri type (disorder) {719171005 , SNOMED-CT } Spondyloepimetaphyseal dysplasia with multiple dislocations (disorder) {766820007 , SNOMED-CT } Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome (disorder) {773300008 , SNOMED-CT } Spondyloepimetaphyseal dysplasia, Strudwick type (disorder) {702350003 , SNOMED-CT } Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) {718765003 , SNOMED-CT } Spondyloepiphyseal dysplasia Kimberley type (disorder) {719203001 , SNOMED-CT } Spondyloepiphyseal dysplasia Maroteaux type (disorder) {719204007 , SNOMED-CT } Spondyloepiphyseal dysplasia Reardon type (disorder) {718764004 , SNOMED-CT } Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) {718763005 , SNOMED-CT } Spondylometaphyseal dysplasia Schmidt type (disorder) {719304005 , SNOMED-CT } Spondyloperipheral dysplasia (disorder) {702339001 , SNOMED-CT } Stapes ankylosis with broad thumb and toe syndrome (disorder) {719305006 , SNOMED-CT } Steatocystoma multiplex (disorder) {109433009 , SNOMED-CT } Steinfeld syndrome (disorder) {716233007 , SNOMED-CT } Stern Lubinsky Durrie syndrome (disorder) {723584003 , SNOMED-CT } Stickler syndrome type 3 (disorder) {783097004 , SNOMED-CT } STING-associated vasculopathy with onset in infancy (disorder) {711164003 , SNOMED-CT } Striate palmoplantar keratoderma (disorder) {764958008 , SNOMED-CT } Subepithelial mucinous corneal dystrophy (disorder) {723582004 , SNOMED-CT } Symphalangism with multiple anomalies of hands and feet syndrome (disorder) {732955001 , SNOMED-CT } Syndactyly type 1 (disorder) {715723008 , SNOMED-CT } Syndactyly type 2 (disorder) {715724002 , SNOMED-CT } Syndactyly type 3 (disorder) {715725001 , SNOMED-CT } Syndactyly type 4 (disorder) {719158007 , SNOMED-CT } Syndactyly type 5 (disorder) {719159004 , SNOMED-CT } Syndromic hypoplasia of orbital border (disorder) {717337001 , SNOMED-CT } Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder) {718761007 , SNOMED-CT } Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) {770788000 , SNOMED-CT } Tarsal-carpal coalition syndrome (disorder) {702312009 , SNOMED-CT } Temple Baraitser syndrome (disorder) {725140007 , SNOMED-CT } Tetramelic monodactyly (disorder) {770945001 , SNOMED-CT } Thickened earlobe with conductive deafness syndrome (disorder) {722476007 , SNOMED-CT } Thiel-Behnke corneal dystrophy (disorder) {417065002 , SNOMED-CT } Thin basement membrane disease (disorder) {236418003 , SNOMED-CT } Thoracolaryngopelvic dysplasia syndrome (disorder) {723556008 , SNOMED-CT } Thrombocythemia with distal limb defect (disorder) {771511005 , SNOMED-CT } Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder) {771182002 , SNOMED-CT } Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder) {733117001 , SNOMED-CT } Tibial aplasia and ectrodactyly syndrome (disorder) {715531000 , SNOMED-CT } Timothy syndrome type 1 (disorder) {699256006 , SNOMED-CT } Timothy syndrome type 2 (disorder) {719907006 , SNOMED-CT } Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder) {723552005 , SNOMED-CT } Transthyretin related familial amyloid cardiomyopathy (disorder) {715655000 , SNOMED-CT } Tremor, nystagmus, duodenal ulcer syndrome (disorder) {782935003 , SNOMED-CT } Trichodysplasia xeroderma syndrome (disorder) {766812005 , SNOMED-CT } Trichorhinophalangeal syndrome type 1 and 3 (disorder) {818959006 , SNOMED-CT } Trigonocephaly with broad thumb syndrome (disorder) {719949001 , SNOMED-CT } Triphalangeal thumb and dislocation of patella syndrome (disorder) {733456002 , SNOMED-CT } Triphalangeal thumb and polysyndactyly syndrome (disorder) {719950001 , SNOMED-CT } Triphalangeal thumb with brachyectrodactyly syndrome (disorder) {719951002 , SNOMED-CT } Tuberous sclerosis syndrome (disorder) {7199000 , SNOMED-CT } Tubular renal disease with cardiomyopathy syndrome (disorder) {719839000 , SNOMED-CT } Turcot syndrome (disorder) {61665008 , SNOMED-CT } Ulna fibula ray defect and brachydactyly syndrome (disorder) {719843001 , SNOMED-CT } Ulna metaphyseal dysplasia syndrome (disorder) {715242008 , SNOMED-CT } Ulnar mammary syndrome (disorder) {700211007 , SNOMED-CT } Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) {719910004 , SNOMED-CT } Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) {719042007 , SNOMED-CT } Velofacioskeletal syndrome (disorder) {763616002 , SNOMED-CT } von Willebrand disease type 1 (disorder) {128106003 , SNOMED-CT } White platelet syndrome (disorder) {718553004 , SNOMED-CT } White sponge nevus of mucosa (disorder) {389203001 , SNOMED-CT } Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder) {389274008 , SNOMED-CT } Wolfram-like syndrome (disorder) {734022008 , SNOMED-CT } WT limb blood syndrome (disorder) {719019000 , SNOMED-CT } Xeroderma, talipes and enamel defect syndrome (disorder) {7037003 , SNOMED-CT } Zimmermann-Laband syndrome (disorder) {699447001 , SNOMED-CT }