Child Concepts
Congenital disease (disorder)
{66091009
, SNOMED-CT
}
Parent/Child (Relationship Type)
[X]Additional congenital disease classification terms (disorder)
{205844000
, SNOMED-CT
}
[X]Other specified congenital malformations of integument (disorder)
{205980001
, SNOMED-CT
}
2-hydroxyglutaric aciduria (disorder)
{698870008
, SNOMED-CT
}
2-methyl-3-hydroxybutyric aciduria (disorder)
{791000124107
, SNOMED-CT
}
Abdominal wall anomalies (disorder)
{205515006
, SNOMED-CT
}
Abnormal root proximity between adjacent teeth (disorder)
{109506007
, SNOMED-CT
}
Abnormal tooth eruption (disorder)
{42510009
, SNOMED-CT
}
Abnormal umbilical cord (disorder)
{90009001
, SNOMED-CT
}
Accessory auricle of bilateral ears (disorder)
{15983511000119100
, SNOMED-CT
}
Action myoclonus renal failure syndrome (disorder)
{764453009
, SNOMED-CT
}
Adherent placenta (disorder)
{28911003
, SNOMED-CT
}
Allantoic cyst (disorder)
{17234001
, SNOMED-CT
}
Amegakaryocytic thrombocytopenia with congenital malformation (disorder)
{359531004
, SNOMED-CT
}
Amyotonia congenita (disorder)
{63135006
, SNOMED-CT
}
Anemia following fetal blood loss (disorder)
{53743006
, SNOMED-CT
}
Anophthalmos of left eye (disorder)
{15665561000119100
, SNOMED-CT
}
Anophthalmos of right eye (disorder)
{450931000124100
, SNOMED-CT
}
Aortic valve cusp prolapse (disorder)
{253612007
, SNOMED-CT
}
Arthrogryposis (disorder)
{111246005
, SNOMED-CT
}
Asexual dwarfism (disorder)
{7530009
, SNOMED-CT
}
Autosomal dominant congenital benign spinal muscular atrophy (disorder)
{763067000
, SNOMED-CT
}
Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
{717046003
, 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 keratitis (disorder)
{715339004
, SNOMED-CT
}
Autosomal dominant macrothrombocytopenia (disorder)
{720521008
, SNOMED-CT
}
Autosomal dominant secondary polycythemia (disorder)
{783202008
, SNOMED-CT
}
Autosomal dominant sideroblastic anemia (disorder)
{1148914007
, SNOMED-CT
}
Autosomal dominant slowed nerve conduction velocity (disorder)
{764854006
, SNOMED-CT
}
Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome (disorder)
{763312008
, SNOMED-CT
}
Autosomal recessive Charcot-Marie-Tooth disease type 2 (disorder)
{1156852009
, SNOMED-CT
}
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency (disorder)
{783768006
, SNOMED-CT
}
Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
{783767001
, SNOMED-CT
}
Autosomal recessive secondary polycythemia not associated with Von Hippel Lindau gene (disorder)
{783766005
, SNOMED-CT
}
Autosomal recessive sideroblastic anemia (disorder)
{717050005
, SNOMED-CT
}
Benign congenital hypotonia (disorder)
{240080003
, SNOMED-CT
}
Benign congenital myopathy (disorder)
{193222002
, SNOMED-CT
}
Biallelic RPE65, retinoid isomerohydrolase mutation associated retinal dystrophy (disorder)
{764969006
, SNOMED-CT
}
Biermer's congenital pernicious anemia (disorder)
{234362006
, SNOMED-CT
}
Biotin-thiamine-responsive basal ganglia disease (disorder)
{703522009
, SNOMED-CT
}
Blepharophimosis epicanthus inversus ptosis syndrome (disorder)
{715391004
, SNOMED-CT
}
Cap myopathy (disorder)
{703532002
, SNOMED-CT
}
Carcinoma in situ of ectopic male breast tissue (disorder)
{92579004
, SNOMED-CT
}
Central nervous system (SNC)/head/neck congenital anomaly NOS (disorder)
{288247004
, SNOMED-CT
}
Cerebral degeneration due to congenital hydrocephalus (disorder)
{192814005
, SNOMED-CT
}
Cerebral palsy, not congenital or infantile, acute (disorder)
{307756005
, SNOMED-CT
}
Charcot-Marie-Tooth disease type 4 (disorder)
{715795005
, SNOMED-CT
}
Chronic diarrhea due to glucoamylase deficiency (disorder)
{716277000
, SNOMED-CT
}
Chuvash erythrocytosis (disorder)
{770407006
, SNOMED-CT
}
Combined pancreatic lipase and colipase deficiency (disorder)
{763212006
, SNOMED-CT
}
Combined pituitary hormone deficiency genetic form (disorder)
{718182008
, SNOMED-CT
}
Confluent muscular ventricular septal defect (disorder)
{449385006
, SNOMED-CT
}
Congenital abduction contracture of hip (disorder)
{205109004
, SNOMED-CT
}
Congenital abnormal shape of arch of cervical vertebra (disorder)
{92890001
, SNOMED-CT
}
Congenital abnormal shape of left external ear (disorder)
{15984351000119109
, SNOMED-CT
}
Congenital abnormal shape of right external ear (disorder)
{15984311000119108
, SNOMED-CT
}
Congenital abnormality of lower limb and pelvic girdle (disorder)
{253937004
, SNOMED-CT
}
Congenital absence of chin (disorder)
{204285005
, SNOMED-CT
}
Congenital absence of entire right hand (disorder)
{15669441000119103
, SNOMED-CT
}
Congenital absence of left external ear (disorder)
{15983111000119107
, SNOMED-CT
}
Congenital absence of left ovary (disorder)
{15932261000119100
, SNOMED-CT
}
Congenital absence of right external ear (disorder)
{15983191000119103
, SNOMED-CT
}
Congenital absence of right ovary (disorder)
{15932221000119105
, SNOMED-CT
}
Congenital absence of right upper limb (disorder)
{15669561000119103
, SNOMED-CT
}
Congenital absence of soft tissue of distal phalanx of finger (disorder)
{450441000124103
, SNOMED-CT
}
Congenital accessory skin tag (disorder)
{84449007
, SNOMED-CT
}
Congenital achalasia of esophagus (disorder)
{700283004
, SNOMED-CT
}
Congenital adhesions of cerebral meninges (disorder)
{204072001
, SNOMED-CT
}
Congenital adrenal hyperplasia (disorder)
{237751000
, SNOMED-CT
}
Congenital adrenogenital syndrome (disorder)
{190511001
, SNOMED-CT
}
Congenital alpha-2-antiplasmin deficiency (disorder)
{716746003
, SNOMED-CT
}
Congenital amegakaryocytic thrombocytopenia (disorder)
{716336002
, SNOMED-CT
}
Congenital anal fissure (disorder)
{1085651000119109
, SNOMED-CT
}
Congenital analbuminemia (disorder)
{718721006
, SNOMED-CT
}
Congenital and developmental anomalies of the nervous system (disorder)
{230764002
, SNOMED-CT
}
Congenital and developmental myasthenia (disorder)
{193216006
, SNOMED-CT
}
Congenital anemia (disorder)
{63565007
, SNOMED-CT
}
Congenital anisocoria (disorder)
{48249002
, SNOMED-CT
}
Congenital anomalies of fetus (disorder)
{4141008
, SNOMED-CT
}
Congenital anomaly - oral/respiratory (navigational concept)
{287082009
, SNOMED-CT
}
Congenital anomaly (disorder)
{443341004
, SNOMED-CT
}
Congenital anomaly of animal tail (disorder)
{92993003
, SNOMED-CT
}
Congenital anomaly of back (disorder)
{363025000
, SNOMED-CT
}
Congenital anomaly of cardiovascular system (disorder)
{9904008
, SNOMED-CT
}
Congenital anomaly of digestive system (disorder)
{69518005
, SNOMED-CT
}
Congenital anomaly of endocrine gland (disorder)
{4184009
, SNOMED-CT
}
Congenital anomaly of eye (disorder)
{19416009
, SNOMED-CT
}
Congenital anomaly of gastrointestinal tract (disorder)
{128347007
, SNOMED-CT
}
Congenital anomaly of head (disorder)
{87290003
, SNOMED-CT
}
Congenital anomaly of integument (disorder)
{38164009
, SNOMED-CT
}
Congenital anomaly of limb (disorder)
{60475009
, SNOMED-CT
}
Congenital anomaly of mother complicating pregnancy (disorder)
{721153000
, SNOMED-CT
}
Congenital anomaly of musculoskeletal system (disorder)
{73573004
, SNOMED-CT
}
Congenital anomaly of neck (disorder)
{40052002
, SNOMED-CT
}
Congenital anomaly of nervous system (disorder)
{88425004
, SNOMED-CT
}
Congenital anomaly of ovary (disorder)
{38296007
, SNOMED-CT
}
Congenital anomaly of respiratory system (disorder)
{77868001
, SNOMED-CT
}
Congenital anomaly of right sternocleidomastoid muscle (disorder)
{15665001000119108
, SNOMED-CT
}
Congenital anomaly of spine (disorder)
{74877002
, SNOMED-CT
}
Congenital anomaly of the hematopoietic system (disorder)
{40888008
, SNOMED-CT
}
Congenital anomaly of the thymus (disorder)
{38824008
, SNOMED-CT
}
Congenital anomaly of tongue, salivary gland AND/OR pharynx (disorder)
{105992002
, SNOMED-CT
}
Congenital anomaly of trunk (disorder)
{78626001
, SNOMED-CT
}
Congenital anomaly of vagina (disorder)
{52904006
, SNOMED-CT
}
Congenital anomaly of vulva (disorder)
{65704008
, SNOMED-CT
}
Congenital anterior subcapsular polar cataract (disorder)
{342911000119104
, SNOMED-CT
}
Congenital aplasia of scrotum (disorder)
{204907006
, SNOMED-CT
}
Congenital arcus juvenilis (disorder)
{8041000119108
, SNOMED-CT
}
Congenital asymmetry of tonsils (disorder)
{445554007
, SNOMED-CT
}
Congenital athetosis (disorder)
{307355007
, SNOMED-CT
}
Congenital atrophy of left lobe of liver (disorder)
{204788008
, SNOMED-CT
}
Congenital atrophy of optic nerve (disorder)
{722990003
, SNOMED-CT
}
Congenital atrophy of thyroid (disorder)
{237517001
, SNOMED-CT
}
Congenital auditory imperception (disorder)
{229748008
, SNOMED-CT
}
Congenital axial myopia (disorder)
{232134006
, SNOMED-CT
}
Congenital axonal neuropathy with encephalopathy (disorder)
{1237626001
, SNOMED-CT
}
Congenital benign giant pigmented nevus of skin (disorder)
{1187209002
, SNOMED-CT
}
Congenital blepharophimosis (disorder)
{93040009
, SNOMED-CT
}
Congenital blepharophimosis of lower eyelid (disorder)
{700277002
, SNOMED-CT
}
Congenital blepharophimosis of upper eyelid (disorder)
{700297007
, SNOMED-CT
}
Congenital blocked tear duct (disorder)
{253205005
, SNOMED-CT
}
Congenital blocked tear duct of left eye (disorder)
{15630451000119101
, SNOMED-CT
}
Congenital blocked tear duct of right eye (disorder)
{15630491000119106
, SNOMED-CT
}
Congenital bowing of long bone (disorder)
{716098006
, SNOMED-CT
}
Congenital brain damage (disorder)
{95610008
, SNOMED-CT
}
Congenital calcium pyrophosphate dihydrate crystal deposition disease (disorder)
{713869000
, SNOMED-CT
}
Congenital cardiac failure (disorder)
{206586007
, SNOMED-CT
}
Congenital cardiovascular disorder (disorder)
{762228008
, SNOMED-CT
}
Congenital cardiovascular disorders during pregnancy, childbirth and the puerperium (disorder)
{267207004
, SNOMED-CT
}
Congenital celiac disease (disorder)
{197478000
, SNOMED-CT
}
Congenital central hypoventilation (disorder)
{399040002
, SNOMED-CT
}
Congenital cerebellar cortical atrophy (disorder)
{371313002
, SNOMED-CT
}
Congenital cerebral palsy (disorder)
{275466008
, SNOMED-CT
}
Congenital chalasia of esophagus (disorder)
{721154006
, SNOMED-CT
}
Congenital chondrolysis of articular cartilage (disorder)
{1153394005
, SNOMED-CT
}
Congenital choroidal fold (disorder)
{342841000119109
, SNOMED-CT
}
Congenital chronic diarrhea with protein-losing enteropathy (disorder)
{773579007
, SNOMED-CT
}
Congenital chylothorax (disorder)
{233646003
, SNOMED-CT
}
Congenital claw toe (disorder)
{95465002
, SNOMED-CT
}
Congenital clinodactyly of little finger of left hand (disorder)
{15671841000119108
, SNOMED-CT
}
Congenital clinodactyly of little finger of right hand (disorder)
{15671881000119103
, SNOMED-CT
}
Congenital coloboma of iris of left eye (disorder)
{15665761000119107
, SNOMED-CT
}
Congenital coloboma of iris of right eye (disorder)
{15665681000119108
, SNOMED-CT
}
Congenital color blindness (disorder)
{232148006
, SNOMED-CT
}
Congenital complete absence of right lower limb (disorder)
{305031000119109
, SNOMED-CT
}
Congenital complete atrioventricular heart block (disorder)
{204383001
, SNOMED-CT
}
Congenital conduction defect (disorder)
{315027009
, SNOMED-CT
}
Congenital connective tissue disorder (disorder)
{363039000
, SNOMED-CT
}
Congenital contracture of gastrocnemius muscle (disorder)
{427103005
, SNOMED-CT
}
Congenital contracture of left gastrocnemius muscle (disorder)
{15670321000119101
, SNOMED-CT
}
Congenital contracture of right gastrocnemius muscle (disorder)
{15670281000119106
, SNOMED-CT
}
Congenital contracture of toe joint (disorder)
{112871000119104
, SNOMED-CT
}
Congenital coronary artery sclerosis (disorder)
{42866003
, SNOMED-CT
}
Congenital cutaneous angiomatosis (disorder)
{73716000
, SNOMED-CT
}
Congenital cutaneous mastocytosis (disorder)
{16833831000119106
, SNOMED-CT
}
Congenital cyst of aryepiglottic fold (disorder)
{722917001
, SNOMED-CT
}
Congenital cyst of fallopian tube (disorder)
{93048002
, SNOMED-CT
}
Congenital cyst of larynx (disorder)
{765763007
, SNOMED-CT
}
Congenital cyst of orbit (disorder)
{733302005
, SNOMED-CT
}
Congenital cyst of pancreas (disorder)
{204808002
, SNOMED-CT
}
Congenital cyst of vulva (disorder)
{31339007
, SNOMED-CT
}
Congenital dacryocele (disorder)
{726334003
, SNOMED-CT
}
Congenital debility of fetus (disorder)
{82022002
, SNOMED-CT
}
Congenital deficiency of alpha-fetoprotein (disorder)
{716698007
, SNOMED-CT
}
Congenital deficiency of intrinsic factor (disorder)
{234361004
, SNOMED-CT
}
Congenital deformity (disorder)
{276655000
, SNOMED-CT
}
Congenital diffuse lipomatosis (disorder)
{238904008
, SNOMED-CT
}
Congenital diplegia (disorder)
{275469001
, SNOMED-CT
}
Congenital dislocation of head of left radius (disorder)
{15669961000119108
, SNOMED-CT
}
Congenital dislocation of head of right radius (disorder)
{15670001000119108
, SNOMED-CT
}
Congenital dislocation of left knee (disorder)
{15670801000119104
, SNOMED-CT
}
Congenital dislocation of right knee (disorder)
{15670841000119102
, SNOMED-CT
}
Congenital disorder due to abnormality of chromosome number OR structure (disorder)
{74345006
, SNOMED-CT
}
Congenital disorder of facial nerve (disorder)
{230541001
, SNOMED-CT
}
Congenital disorder of gallbladder and biliary tract (disorder)
{235913009
, SNOMED-CT
}
Congenital diverticulitis of small intestine (disorder)
{721646008
, SNOMED-CT
}
Congenital dysarthria (disorder)
{230785002
, SNOMED-CT
}
Congenital dysphasia (disorder)
{230786001
, SNOMED-CT
}
Congenital dysplasia of left hip (disorder)
{15666841000119108
, SNOMED-CT
}
Congenital dysplasia of right hip (disorder)
{15666881000119103
, SNOMED-CT
}
Congenital dystrophia brevicollis (disorder)
{388981000
, SNOMED-CT
}
Congenital elephantiasis (disorder)
{205545009
, SNOMED-CT
}
Congenital elevation of right scapula (disorder)
{15670241000119101
, SNOMED-CT
}
Congenital elliptocytosis (disorder)
{178935009
, SNOMED-CT
}
Congenital end-plate acetylcholinesterase deficiency (disorder)
{230677000
, SNOMED-CT
}
Congenital epignathus (disorder)
{897277000
, SNOMED-CT
}
Congenital epithelial dysplasia of intestine (disorder)
{715669000
, SNOMED-CT
}
Congenital exophthalmos (disorder)
{93081001
, SNOMED-CT
}
Congenital exotropia (disorder)
{314786000
, SNOMED-CT
}
Congenital extension contracture of the knee (disorder)
{302955009
, SNOMED-CT
}
Congenital facial asymmetry (disorder)
{13851000119109
, SNOMED-CT
}
Congenital factor IX deficiency variant (disorder)
{234444001
, SNOMED-CT
}
Congenital factor IX deficiency with inhibitor (disorder)
{234445000
, SNOMED-CT
}
Congenital factor IX deficiency without inhibitor (disorder)
{426199009
, SNOMED-CT
}
Congenital failure of eye elevation (disorder)
{230529008
, SNOMED-CT
}
Congenital fascial dystrophy (disorder)
{399948007
, SNOMED-CT
}
Congenital fecaliths (disorder)
{3886001
, SNOMED-CT
}
Congenital fecaliths causing obstruction (disorder)
{206529002
, SNOMED-CT
}
Congenital fibrinogen abnormality (disorder)
{234456000
, SNOMED-CT
}
Congenital fibrosis syndrome (disorder)
{400946004
, SNOMED-CT
}
Congenital flexion contracture of hip (disorder)
{205108007
, SNOMED-CT
}
Congenital flexion contracture of knee (disorder)
{205110009
, SNOMED-CT
}
Congenital folate malabsorption anemia (disorder)
{191146005
, SNOMED-CT
}
Congenital forefoot varus (disorder)
{229845003
, SNOMED-CT
}
Congenital functional disorders of the colon (disorder)
{253778009
, SNOMED-CT
}
Congenital functional disorders of the small intestine (disorder)
{253767001
, SNOMED-CT
}
Congenital generalized flexion contractures of lower limb joints (disorder)
{16071000
, SNOMED-CT
}
Congenital genu recurvatum of right knee (disorder)
{15671121000119107
, SNOMED-CT
}
Congenital genu valgum of left knee (disorder)
{15670521000119105
, SNOMED-CT
}
Congenital genu valgum of right knee (disorder)
{15670561000119100
, SNOMED-CT
}
Congenital glaucoma (disorder)
{204113001
, SNOMED-CT
}
Congenital glenoid dysplasia (disorder)
{2111000119106
, SNOMED-CT
}
Congenital glucose-galactose malabsorption (disorder)
{27943000
, SNOMED-CT
}
Congenital hamartoma (disorder)
{399960008
, SNOMED-CT
}
Congenital hamartosis (disorder)
{75523000
, SNOMED-CT
}
Congenital hearing disorder (disorder)
{95827002
, SNOMED-CT
}
Congenital heart disease (disorder)
{13213009
, SNOMED-CT
}
Congenital hepatic fibrosis (disorder)
{79607001
, SNOMED-CT
}
Congenital hepatomegaly (disorder)
{407000
, SNOMED-CT
}
Congenital hernia of urinary bladder (disorder)
{205022009
, SNOMED-CT
}
Congenital His bundle tachycardia (disorder)
{233902009
, SNOMED-CT
}
Congenital horizontal gaze palsy (disorder)
{1217622009
, SNOMED-CT
}
Congenital Horner syndrome (disorder)
{770626007
, SNOMED-CT
}
Congenital hourglass stomach (disorder)
{62058003
, SNOMED-CT
}
Congenital hydrocele (disorder)
{82062003
, SNOMED-CT
}
Congenital hydrosalpinx (disorder)
{253825002
, SNOMED-CT
}
Congenital hydrothorax (disorder)
{734477008
, SNOMED-CT
}
Congenital hypertonia (disorder)
{206588008
, SNOMED-CT
}
Congenital hypogonadotropic hypogonadism (disorder)
{722944006
, SNOMED-CT
}
Congenital hypothyroidism (disorder)
{190268003
, SNOMED-CT
}
Congenital ichthyosiform erythroderma (disorder)
{254156001
, SNOMED-CT
}
Congenital immunodeficiency disease (disorder)
{36138009
, SNOMED-CT
}
Congenital incomplete atrioventricular heart block (disorder)
{204384007
, SNOMED-CT
}
Congenital incomplete closure of velopharyngeal apparatus (disorder)
{700285006
, SNOMED-CT
}
Congenital incomplete closure of velopharyngeal apparatus due to neuromuscular dysfunction (disorder)
{427791009
, SNOMED-CT
}
Congenital infection caused by Lymphocytic choriomeningitis virus (disorder)
{1163118004
, SNOMED-CT
}
Congenital infectious disease (disorder)
{82353009
, SNOMED-CT
}
Congenital inguinal hernia (disorder)
{429200006
, SNOMED-CT
}
Congenital insensitivity to pain with severe intellectual disability (disorder)
{1237623009
, SNOMED-CT
}
Congenital instability of hip joint (disorder)
{271015004
, SNOMED-CT
}
Congenital internal torsion of tibia of left lower limb (disorder)
{15715401000119107
, SNOMED-CT
}
Congenital internal torsion of tibia of right lower limb (disorder)
{15715361000119103
, SNOMED-CT
}
Congenital intestinal adhesions (disorder)
{204748003
, SNOMED-CT
}
Congenital ischemic atrophy of central nervous system structure (disorder)
{31076000
, SNOMED-CT
}
Congenital isolated adrenocorticotropic hormone deficiency (disorder)
{1231283007
, SNOMED-CT
}
Congenital keratoderma (disorder)
{6874009
, SNOMED-CT
}
Congenital kyphoscoliosis (disorder)
{405772002
, SNOMED-CT
}
Congenital kyphosis (disorder)
{71311003
, SNOMED-CT
}
Congenital kyphosis of cervical spine (disorder)
{305111000119100
, SNOMED-CT
}
Congenital lactase deficiency (disorder)
{5388008
, SNOMED-CT
}
Congenital laryngeal abductor palsy (disorder)
{232442001
, SNOMED-CT
}
Congenital laryngeal adductor palsy (disorder)
{232443006
, SNOMED-CT
}
Congenital leptin deficiency (disorder)
{700150001
, SNOMED-CT
}
Congenital leptomeningeal angiomatosis (disorder)
{79801002
, SNOMED-CT
}
Congenital lethal erythroderma (disorder)
{722391005
, SNOMED-CT
}
Congenital macroglossia (disorder)
{270516002
, SNOMED-CT
}
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder)
{722392003
, SNOMED-CT
}
Congenital malalignment of multiple toenails (disorder)
{403282000
, SNOMED-CT
}
Congenital male infertility (disorder)
{236790005
, SNOMED-CT
}
Congenital malformation (disorder)
{276654001
, SNOMED-CT
}
Congenital malformation of left external ear (disorder)
{457051000124105
, SNOMED-CT
}
Congenital malformation of left inner ear (disorder)
{15984711000119109
, SNOMED-CT
}
Congenital malformation of left middle ear (disorder)
{15979271000119100
, SNOMED-CT
}
Congenital malformation of right external ear (disorder)
{457061000124107
, SNOMED-CT
}
Congenital malformation of right inner ear (disorder)
{15984671000119105
, SNOMED-CT
}
Congenital malformation of right middle ear (disorder)
{15979191000119107
, SNOMED-CT
}
Congenital malformation of tongue, mouth and pharynx (disorder)
{253750008
, SNOMED-CT
}
Congenital malignant melanoma (disorder)
{402559007
, SNOMED-CT
}
Congenital malposition of bilateral external ears (disorder)
{15983311000119105
, SNOMED-CT
}
Congenital malposition of digestive organs (disorder)
{73943003
, SNOMED-CT
}
Congenital malposition of eyelid (disorder)
{726406009
, SNOMED-CT
}
Congenital malposition of tongue (disorder)
{1085631000119103
, SNOMED-CT
}
Congenital mass of mitral leaflet (disorder)
{447875008
, SNOMED-CT
}
Congenital megaprepuce (disorder)
{452771000124100
, SNOMED-CT
}
Congenital melanocytic nevus of trunk (disorder)
{683271000119108
, SNOMED-CT
}
Congenital melanosis (disorder)
{86042009
, SNOMED-CT
}
Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization (disorder)
{725592009
, SNOMED-CT
}
Congenital meningocele (disorder)
{172069000
, SNOMED-CT
}
Congenital methemoglobinemia (disorder)
{267550008
, SNOMED-CT
}
Congenital microvillous atrophy (disorder)
{235729009
, SNOMED-CT
}
Congenital monocular elevator palsy (disorder)
{1217640008
, SNOMED-CT
}
Congenital monosaccharide malabsorption (disorder)
{450849003
, SNOMED-CT
}
Congenital muscular subaortic stenosis (disorder)
{360473004
, SNOMED-CT
}
Congenital myasthenic syndrome (disorder)
{230672006
, SNOMED-CT
}
Congenital mydriasis (disorder)
{400963000
, SNOMED-CT
}
Congenital myotonia, autosomal dominant form (disorder)
{57938005
, SNOMED-CT
}
Congenital myotonia, autosomal recessive form (disorder)
{20305008
, SNOMED-CT
}
Congenital myotonic dystrophy (disorder)
{240104008
, SNOMED-CT
}
Congenital nasolacrimal duct obstruction (disorder)
{193994000
, SNOMED-CT
}
Congenital nephritis (disorder)
{276585000
, SNOMED-CT
}
Congenital nephrotic syndrome (disorder)
{48796009
, SNOMED-CT
}
Congenital nephrotic syndrome due to congenital infection (disorder)
{722118005
, SNOMED-CT
}
Congenital nephrotic syndrome due to diffuse mesangial sclerosis (disorder)
{722369003
, SNOMED-CT
}
Congenital nephrotic syndrome with focal glomerulosclerosis (disorder)
{236384008
, SNOMED-CT
}
Congenital neurogenic ileus syndrome (disorder)
{129601002
, SNOMED-CT
}
Congenital neutrophil actin dysfunction (disorder)
{40145002
, SNOMED-CT
}
Congenital non-progressive ataxia (disorder)
{278509004
, SNOMED-CT
}
Congenital nystagmus (disorder)
{64635004
, SNOMED-CT
}
Congenital obstruction of aqueduct of Sylvius (disorder)
{67876003
, SNOMED-CT
}
Congenital obstruction of bile duct (disorder)
{51038004
, SNOMED-CT
}
Congenital obstruction of lacrimal canaliculus (disorder)
{95508001
, SNOMED-CT
}
Congenital obstruction of large intestine (disorder)
{57265009
, SNOMED-CT
}
Congenital obstruction of neck of urinary bladder (disorder)
{46284005
, SNOMED-CT
}
Congenital obstruction of small intestine (disorder)
{26315009
, SNOMED-CT
}
Congenital obstruction of ureteral orifice (disorder)
{373585009
, SNOMED-CT
}
Congenital obstruction of ureteropelvic junction (disorder)
{373584008
, SNOMED-CT
}
Congenital obstruction of urethra (disorder)
{48980001
, SNOMED-CT
}
Congenital obstructive megaureter (disorder)
{373583002
, SNOMED-CT
}
Congenital occlusion of anus (disorder)
{69817007
, SNOMED-CT
}
Congenital occlusion of ureter (disorder)
{16619007
, SNOMED-CT
}
Congenital oculomotor nerve palsy (disorder)
{1217207008
, SNOMED-CT
}
Congenital onychoatrophy (disorder)
{403284004
, SNOMED-CT
}
Congenital onychodysplasia of index fingers (disorder)
{403281007
, SNOMED-CT
}
Congenital OR acquired abnormality of cervix affecting pregnancy (disorder)
{111443000
, SNOMED-CT
}
Congenital OR acquired abnormality of vagina affecting pregnancy (disorder)
{111444006
, SNOMED-CT
}
Congenital or acquired abnormality of vagina in pregnancy, childbirth and the puerperium (disorder)
{267238003
, SNOMED-CT
}
Congenital OR acquired abnormality of vulva affecting pregnancy (disorder)
{111445007
, SNOMED-CT
}
Congenital or acquired abnormality of vulva in pregnancy, childbirth and the puerperium (disorder)
{267245003
, SNOMED-CT
}
Congenital osteodystrophy (disorder)
{5731000119108
, SNOMED-CT
}
Congenital palatoesophageal incoordination (disorder)
{253758001
, SNOMED-CT
}
Congenital palsy of trochlear nerve (disorder)
{1204418008
, SNOMED-CT
}
Congenital pancreatic trypsin deficiency (disorder)
{54119007
, SNOMED-CT
}
Congenital parachute malformation of left atrioventricular valve (disorder)
{253507001
, SNOMED-CT
}
Congenital parachute malformation of right atrioventricular valve (disorder)
{253479002
, SNOMED-CT
}
Congenital paraplegia (disorder)
{192949002
, SNOMED-CT
}
Congenital pericardial effusion (disorder)
{450303000
, SNOMED-CT
}
Congenital peripheral aneurysm (disorder)
{268190004
, SNOMED-CT
}
Congenital pes cavus (disorder)
{205091006
, SNOMED-CT
}
Congenital pes planus (disorder)
{23407003
, SNOMED-CT
}
Congenital pes planus of left foot (disorder)
{15630371000119103
, SNOMED-CT
}
Congenital pigmented melanocytic nevus (disorder)
{398696001
, SNOMED-CT
}
Congenital plagiocephaly with pelvic obliquity (disorder)
{423095007
, SNOMED-CT
}
Congenital plasminogen activator inhibitor deficiency type 1 (disorder)
{717407006
, SNOMED-CT
}
Congenital plicated tongue (disorder)
{204631004
, SNOMED-CT
}
Congenital pneumonia (disorder)
{78895009
, SNOMED-CT
}
Congenital porencephalic cyst (disorder)
{330041000119103
, SNOMED-CT
}
Congenital porphyria (disorder)
{190913009
, SNOMED-CT
}
Congenital positional plagiocephaly (disorder)
{22301000119102
, SNOMED-CT
}
Congenital positional talipes (disorder)
{395693008
, SNOMED-CT
}
Congenital posterior subcapsular polar cataract (disorder)
{342821000119103
, SNOMED-CT
}
Congenital postural curvature of spine (disorder)
{254029000
, SNOMED-CT
}
Congenital postural scoliosis (disorder)
{20944008
, SNOMED-CT
}
Congenital primary adrenocortical hypofunction (disorder)
{12427005
, SNOMED-CT
}
Congenital pseudobulbar palsy (disorder)
{230784003
, SNOMED-CT
}
Congenital pseudopapilledema (disorder)
{1231686007
, SNOMED-CT
}
Congenital pseudoporencephaly (disorder)
{48376004
, SNOMED-CT
}
Congenital pseudostrabismus (disorder)
{348971000119105
, SNOMED-CT
}
Congenital pterygium of nail (disorder)
{403283005
, SNOMED-CT
}
Congenital pulmonary alveolar proteinosis (disorder)
{707442002
, SNOMED-CT
}
Congenital pyloric spasm (disorder)
{204670005
, SNOMED-CT
}
Congenital quadriplegia (disorder)
{275468009
, SNOMED-CT
}
Congenital rearfoot varus (disorder)
{229846002
, SNOMED-CT
}
Congenital rectal fissure (disorder)
{1085681000119102
, SNOMED-CT
}
Congenital renal atrophy (disorder)
{204941003
, SNOMED-CT
}
Congenital renal cyst (disorder)
{369071000119105
, SNOMED-CT
}
Congenital retinoschisis (disorder)
{95493003
, SNOMED-CT
}
Congenital retroversion of left femur (finding)
{453361000124103
, SNOMED-CT
}
Congenital retroversion of right femur (finding)
{15669841000119100
, SNOMED-CT
}
Congenital sacral meningocele (disorder)
{95478002
, SNOMED-CT
}
Congenital scoliosis due to bony malformation (disorder)
{205045003
, SNOMED-CT
}
Congenital secondary hydronephrosis (disorder)
{724469003
, SNOMED-CT
}
Congenital secretory diarrhea (disorder)
{25898005
, SNOMED-CT
}
Congenital sensory neuropathy with selective loss of small myelinated fibers (disorder)
{128206006
, SNOMED-CT
}
Congenital sequelae of disorders (disorder)
{363042006
, SNOMED-CT
}
Congenital single renal cyst (disorder)
{5941000119101
, SNOMED-CT
}
Congenital sixth nerve palsy (disorder)
{400945000
, SNOMED-CT
}
Congenital skin contracture (disorder)
{10624871000119109
, SNOMED-CT
}
Congenital spastic cerebral palsy (disorder)
{275467004
, SNOMED-CT
}
Congenital spastic foot (disorder)
{230779009
, SNOMED-CT
}
Congenital spondylolisthesis (disorder)
{13236000
, SNOMED-CT
}
Congenital stationary night blindness (disorder)
{232061009
, SNOMED-CT
}
Congenital stenosis (disorder)
{702670001
, SNOMED-CT
}
Congenital stenosis of eustachian tube (disorder)
{204252002
, SNOMED-CT
}
Congenital stenosis of external auditory canal (disorder)
{361265002
, SNOMED-CT
}
Congenital stenosis of intestinal tract (disorder)
{93386004
, SNOMED-CT
}
Congenital stenosis of large intestine (disorder)
{737197004
, SNOMED-CT
}
Congenital stenosis of nasal pyriform aperture (disorder)
{702644002
, SNOMED-CT
}
Congenital syringomyelia (disorder)
{371076006
, SNOMED-CT
}
Congenital talipes calcaneovalgus (disorder)
{205083002
, SNOMED-CT
}
Congenital talipes calcaneus (disorder)
{231250005
, SNOMED-CT
}
Congenital talipes equinovarus (disorder)
{1156475005
, SNOMED-CT
}
Congenital talipes equinus (disorder)
{205097005
, SNOMED-CT
}
Congenital teratoma of nasopharynx (disorder)
{1003468008
, SNOMED-CT
}
Congenital thrombocytopenia (disorder)
{10386005
, SNOMED-CT
}
Congenital thrombocytopenia (disorder)
{737221003
, SNOMED-CT
}
Congenital thrombocytopenic purpura (disorder)
{267535004
, SNOMED-CT
}
Congenital tortuosity of branch of aortic arch (disorder)
{472133008
, SNOMED-CT
}
Congenital transferrin deficiency (disorder)
{234353009
, SNOMED-CT
}
Congenital tremor syndrome (disorder)
{59704003
, SNOMED-CT
}
Congenital trigeminal anesthesia (disorder)
{763218005
, SNOMED-CT
}
Congenital uremia (disorder)
{276627004
, SNOMED-CT
}
Congenital vaginal enterocele (disorder)
{198273008
, SNOMED-CT
}
Congenital valgus deformity of foot (disorder)
{22099008
, SNOMED-CT
}
Congenital varus deformity of foot (disorder)
{42162004
, SNOMED-CT
}
Congenital vascular disorder (disorder)
{399982001
, SNOMED-CT
}
Congenital venous varix (disorder)
{204482005
, SNOMED-CT
}
Congenital vertical talus (disorder)
{205082007
, SNOMED-CT
}
Congenital viral hepatitis (disorder)
{206372007
, SNOMED-CT
}
Congenital vocal cord palsy (disorder)
{232441008
, SNOMED-CT
}
Congenital volvulus of stomach (disorder)
{84974003
, SNOMED-CT
}
Congenital von Willebrand's disease (disorder)
{234446004
, SNOMED-CT
}
Congenital/genetic syndrome with poikiloderma (disorder)
{402769003
, SNOMED-CT
}
Congenital/hereditary angiokeratoma (disorder)
{402838005
, SNOMED-CT
}
Congenital/hereditary hypermelanotic disorder (disorder)
{402609009
, SNOMED-CT
}
Congenital/hereditary lentiginosis (disorder)
{402806000
, SNOMED-CT
}
Conjoined twins (disorder)
{41337007
, SNOMED-CT
}
Continuity between mitral valve and pulmonary valve (disorder)
{447681003
, SNOMED-CT
}
Cor biloculare (disorder)
{81990004
, SNOMED-CT
}
Coronary sinus abnormality (disorder)
{253323000
, SNOMED-CT
}
Cutis tricolor (disorder)
{1293152007
, SNOMED-CT
}
Cyanotic congenital heart disease (disorder)
{12770006
, SNOMED-CT
}
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome (disorder)
{763688008
, SNOMED-CT
}
Defect of purinergic receptor p2y G protein-coupled 12 (disorder)
{725291001
, SNOMED-CT
}
Dental arch length loss secondary to congenitally missing teeth (disorder)
{109653001
, SNOMED-CT
}
Dental midlines coincident and incorrect (finding)
{278682004
, SNOMED-CT
}
Developmental and/or congenital abnormality of nail (disorder)
{402625004
, SNOMED-CT
}
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency (disorder)
{783741006
, SNOMED-CT
}
Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
{783740007
, SNOMED-CT
}
Diffuse palmoplantar keratoderma and acrocyanosis syndrome (disorder)
{721096008
, SNOMED-CT
}
Discontinuity between mitral valve and pulmonary valve (disorder)
{447683000
, SNOMED-CT
}
Disorder of lysosomal enzyme (disorder)
{23585005
, SNOMED-CT
}
Disorder: ectopic bone tissue, congenital (disorder)
{26155004
, SNOMED-CT
}
Double orifice of right atrioventricular valve in double inlet ventricle (disorder)
{449111002
, SNOMED-CT
}
Dysmorphological structure (disorder)
{277370002
, SNOMED-CT
}
Dysraphism of cervical spine (disorder)
{200021000119109
, SNOMED-CT
}
Dystopia canthorum (disorder)
{726407000
, SNOMED-CT
}
Ear, face and neck congenital anomalies (disorder)
{204223000
, SNOMED-CT
}
Ectopic placenta (disorder)
{26358008
, SNOMED-CT
}
Embryological remnant (disorder)
{276752006
, SNOMED-CT
}
Encephalocraniocutaneous lipomatosis (disorder)
{238905009
, SNOMED-CT
}
Endocardial fibroelastosis of right atrium (disorder)
{253348002
, SNOMED-CT
}
Epidermoid cyst of spleen (disorder)
{234501002
, SNOMED-CT
}
Erythema palmare hereditarium (disorder)
{763767006
, SNOMED-CT
}
Extensive congenital erosions, vesicles and reticulate scarring (disorder)
{238851009
, SNOMED-CT
}
Familial congenital mirror movements (disorder)
{784348007
, SNOMED-CT
}
Familial congenital palsy of trochlear nerve (disorder)
{782679002
, SNOMED-CT
}
Familial focal epilepsy with variable foci (disorder)
{764522009
, SNOMED-CT
}
Familial lipoprotein lipase deficiency (disorder)
{275598004
, SNOMED-CT
}
Familial long QT syndrome (disorder)
{442917000
, SNOMED-CT
}
Familial nasal acilia (disorder)
{763532008
, SNOMED-CT
}
Female infertility associated with congenital anomaly of uterus (disorder)
{65454003
, SNOMED-CT
}
Female infertility due to congenital anomaly of fallopian tube (disorder)
{82593008
, SNOMED-CT
}
Fenestrated interatrial communication within oval fossa (disorder)
{448575000
, SNOMED-CT
}
Fetal congenital tumor causing disproportion (disorder)
{23695007
, SNOMED-CT
}
Fetal intrauterine intestinal perforation co-occurrent and due to congenital stenosis of intestinal tract (disorder)
{762272006
, SNOMED-CT
}
Fibrous dysplasia of bone (disorder)
{10623005
, SNOMED-CT
}
Focal palmoplantar and gingival keratoderma (disorder)
{764963007
, SNOMED-CT
}
Fordyce's disease (disorder)
{50584008
, SNOMED-CT
}
FOXG1 syndrome (disorder)
{702450004
, SNOMED-CT
}
Frontal bossing (disorder)
{90145001
, SNOMED-CT
}
Fundus albipunctatus (disorder)
{764939004
, SNOMED-CT
}
Gelatinous atrioventricular valve leaflet in atrioventricular septal defect (disorder)
{448626007
, SNOMED-CT
}
Generalized congenital intestinal dysmotility (disorder)
{253785008
, SNOMED-CT
}
Generalized failure of tooth eruption associated with systemic disease (disorder)
{109543009
, SNOMED-CT
}
Generalized glucocorticoid resistance syndrome (disorder)
{819950002
, SNOMED-CT
}
Gingival odontogenic cyst (disorder)
{58271001
, SNOMED-CT
}
Growth delay due to insulin-like growth factor type 1 deficiency (disorder)
{724385009
, SNOMED-CT
}
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder)
{764962002
, SNOMED-CT
}
Hereditary adrenal unresponsiveness to corticotropin (disorder)
{71974009
, SNOMED-CT
}
Hereditary anetoderma (disorder)
{733467001
, SNOMED-CT
}
Hereditary congenital prekallikrein deficiency (disorder)
{1162804003
, SNOMED-CT
}
Hereditary disorder of endocrine system (disorder)
{363104002
, SNOMED-CT
}
Hereditary factor IX deficiency disease (disorder)
{41788008
, SNOMED-CT
}
Hereditary factor XI deficiency disease (disorder)
{49762007
, SNOMED-CT
}
Hereditary hemoglobinopathy (disorder)
{427306008
, SNOMED-CT
}
Hereditary nephrogenic diabetes insipidus (disorder)
{61165007
, SNOMED-CT
}
Hereditary systemic amyloidosis (disorder)
{107311000119104
, SNOMED-CT
}
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency (disorder)
{783250007
, SNOMED-CT
}
Heterozygous methylenetetrahydrofolate reductase mutation (disorder)
{139821000119102
, SNOMED-CT
}
Homozygous methylenetetrahydrofolate reductase mutation (disorder)
{139811000119109
, SNOMED-CT
}
Hutch diverticulum (disorder)
{431771000124109
, SNOMED-CT
}
Hydrocephalus associated with congenital aqueduct stenosis (disorder)
{302882002
, SNOMED-CT
}
Hydrocephalus associated with late onset aqueduct stenosis (disorder)
{253131002
, SNOMED-CT
}
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)
{764456001
, 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 short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)
{721236002
, SNOMED-CT
}
Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)
{721834007
, SNOMED-CT
}
Hypermethioninemia due to deficiency of glycine N-methyltransferase (disorder)
{763720007
, SNOMED-CT
}
Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)
{763721006
, SNOMED-CT
}
Hypomagnesemia with secondary hypocalcemia (disorder)
{711151004
, SNOMED-CT
}
Hypothyroidism - congenital and acquired (disorder)
{286910004
, SNOMED-CT
}
Impacted teeth with abnormal position (disorder)
{9226004
, SNOMED-CT
}
Inborn error of metabolism (disorder)
{86095007
, SNOMED-CT
}
Infantile esotropia (disorder)
{232093001
, SNOMED-CT
}
Infantile myofibromatosis (disorder)
{254146000
, SNOMED-CT
}
Inherited congenital spastic tetraplegia (disorder)
{782887003
, SNOMED-CT
}
Integument anomalies NOS (disorder)
{268291009
, SNOMED-CT
}
Isolated congenital horizontal gaze paresis (disorder)
{1217643005
, SNOMED-CT
}
Isolated follicle stimulating hormone deficiency (disorder)
{758664007
, SNOMED-CT
}
Isolated generalized anhidrosis with normal sweat glands (disorder)
{1187178004
, SNOMED-CT
}
Kandori fleck retina syndrome (disorder)
{765191009
, SNOMED-CT
}
Kasabach-Merritt syndrome (disorder)
{86635005
, SNOMED-CT
}
Keratosis pilaris with ichthyosis and deafness (disorder)
{239061008
, SNOMED-CT
}
Known or suspected fetal abnormality (disorder)
{199516000
, SNOMED-CT
}
Leber's amaurosis (disorder)
{193413001
, SNOMED-CT
}
Left atrioventricular valve bifoliate with fused left sided superior and inferior bridging leaflet (disorder)
{448026008
, SNOMED-CT
}
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder)
{735421004
, SNOMED-CT
}
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)
{764095005
, SNOMED-CT
}
Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder)
{763366000
, SNOMED-CT
}
Lipoma due to neurospinal dysraphism (disorder)
{1003434002
, SNOMED-CT
}
Longitudinal deficiency of left femur (disorder)
{313261000119109
, SNOMED-CT
}
Longitudinal deficiency of left fibula (disorder)
{313271000119103
, SNOMED-CT
}
Longitudinal deficiency of limb (disorder)
{67341007
, SNOMED-CT
}
Longitudinal deficiency of part of limb (disorder)
{716638009
, SNOMED-CT
}
Lymphadenopathy due to congenital toxoplasmosis (disorder)
{281898005
, SNOMED-CT
}
Macrodactyly of toe of left foot (disorder)
{15671721000119108
, SNOMED-CT
}
Macrodactyly of toe of right foot (disorder)
{15671681000119102
, SNOMED-CT
}
Malignant melanoma arising in congenital nevus (disorder)
{254734009
, SNOMED-CT
}
Median nodule of upper lip (disorder)
{722034006
, SNOMED-CT
}
Metabolic myopathy due to lactate transporter defect (disorder)
{766715000
, SNOMED-CT
}
Metachromatic leukodystrophy, congenital type (disorder)
{40802007
, SNOMED-CT
}
Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder)
{765137006
, SNOMED-CT
}
Mongolian spot (disorder)
{40467008
, SNOMED-CT
}
Monster NOS (disorder)
{205785001
, SNOMED-CT
}
Mottled teeth, congenital (disorder)
{84752003
, SNOMED-CT
}
Multiple supernumerary teeth unrelated to systemic condition (disorder)
{109455001
, SNOMED-CT
}
Muscle filaminopathy (disorder)
{764992006
, SNOMED-CT
}
Muscular ventricular septal defect in trabecular septum (disorder)
{449190000
, SNOMED-CT
}
Myelocele (disorder)
{82058009
, SNOMED-CT
}
Myofibromatosis (disorder)
{253043004
, SNOMED-CT
}
Myopathy with hexagonally cross-linked tubular arrays (disorder)
{764994007
, SNOMED-CT
}
Myosclerosis (disorder)
{763895001
, SNOMED-CT
}
Myostatin related hypertrophy of muscle (disorder)
{699185005
, SNOMED-CT
}
Myotonia congenita (disorder)
{726051002
, SNOMED-CT
}
Natal tooth (disorder)
{21995002
, SNOMED-CT
}
Nemaline myopathy, early onset type (disorder)
{129621001
, SNOMED-CT
}
Neonatal intestinal perforation co-occurrent and due to congenital intestinal stenosis (disorder)
{735720002
, SNOMED-CT
}
Neonatal intestinal perforation co-occurrent and due to in utero intraluminal obstruction (disorder)
{735722005
, SNOMED-CT
}
Neonatal jaundice with congenital hypothyroidism (disorder)
{206457007
, SNOMED-CT
}
Nephrogenic syndrome of inappropriate antidiuresis (disorder)
{723440000
, SNOMED-CT
}
Neurocutaneous syndrome (disorder)
{78572006
, SNOMED-CT
}
Neurofibromatosis type 1-like syndrome (disorder)
{703541007
, SNOMED-CT
}
Nicolaides-Baraitser syndrome (disorder)
{401046009
, SNOMED-CT
}
Nonfenestrated interatrial communication within oval fossa (disorder)
{447933008
, SNOMED-CT
}
Non-syndromic mitochondrial sensorineural deafness (disorder)
{1187512003
, SNOMED-CT
}
Obstructed interchordal space of tricuspid chordae tendinae (disorder)
{449534004
, SNOMED-CT
}
Obstructed pulmonary venous connection at coronary sinus orifice (disorder)
{446890001
, SNOMED-CT
}
Occipital meningocele (disorder)
{445468002
, SNOMED-CT
}
Other and unspecified congenital anomalies (disorder)
{205730000
, SNOMED-CT
}
Other congenital anomalies (disorder)
{268353007
, SNOMED-CT
}
Other specified face and neck anomalies (disorder)
{204282008
, SNOMED-CT
}
Other specified integument anomaly (disorder)
{205609000
, SNOMED-CT
}
Other specified nonteratogenic anomalies (disorder)
{205100000
, SNOMED-CT
}
Oto-onycho-peroneal syndrome (disorder)
{441944007
, SNOMED-CT
}
OTU deubiquitinase with linear linkage specificity related autoinflammatory syndrome (disorder)
{765435009
, SNOMED-CT
}
Pacman dysplasia (disorder)
{722127006
, SNOMED-CT
}
Palmoplantar keratoderma Nagashima type (disorder)
{722205008
, SNOMED-CT
}
Parachute malformation of common atrioventricular valve (disorder)
{253450009
, SNOMED-CT
}
Paraganglioma and gastric stromal sarcoma syndrome (disorder)
{722377004
, SNOMED-CT
}
Partial defect of ulna (disorder)
{205180002
, SNOMED-CT
}
Patent foramen ovale (disorder)
{204317008
, SNOMED-CT
}
Pericarditis secondary to Mulibrey nanism (disorder)
{31080005
, SNOMED-CT
}
Pericellular fibrosis of congenital syphilis (disorder)
{235898000
, SNOMED-CT
}
Perinatal jaundice due to congenital obstruction of bile duct (disorder)
{206469004
, SNOMED-CT
}
Persistent embryonic hypoglossal artery (disorder)
{253197001
, SNOMED-CT
}
Persistent embryonic otic artery (disorder)
{253196005
, SNOMED-CT
}
Persistent embryonic proatlantal intersegmental artery (disorder)
{253198006
, SNOMED-CT
}
Persistent embryonic trigeminal artery (disorder)
{253195009
, SNOMED-CT
}
Pigmented paravenous retinochoroidal atrophy (disorder)
{723450004
, SNOMED-CT
}
Pituitary dwarfism (disorder)
{367460001
, SNOMED-CT
}
Placenta previa centralis (disorder)
{15663008
, SNOMED-CT
}
Placenta previa marginalis (disorder)
{62531004
, SNOMED-CT
}
Platelet storage pool defect (disorder)
{128099001
, SNOMED-CT
}
Platelet type pseudo-von Willebrand disease (disorder)
{270117002
, SNOMED-CT
}
Polydactyly of fingers of left hand (disorder)
{15666441000119105
, SNOMED-CT
}
Polydactyly of fingers of right hand (disorder)
{15666361000119104
, SNOMED-CT
}
Polydactyly of toes of left foot (disorder)
{15666161000119102
, SNOMED-CT
}
Polydactyly of toes of right foot (disorder)
{15666121000119107
, SNOMED-CT
}
Porokeratosis of Mantoux (disorder)
{111031005
, SNOMED-CT
}
Posterior deviation of infundibular septum of obstructive aortic arch type (disorder)
{448786001
, SNOMED-CT
}
Preauricular dimple (disorder)
{1955003
, SNOMED-CT
}
Preauricular fistula (disorder)
{204272007
, SNOMED-CT
}
Precocious exfoliation of teeth due to idiopathic root resorption (disorder)
{109533006
, SNOMED-CT
}
Precocious exfoliation of teeth due to root resorption following trauma (disorder)
{109534000
, SNOMED-CT
}
Primary congenital glaucoma (disorder)
{415176004
, SNOMED-CT
}
Primary endocardial fibroelastosis of left ventricle (disorder)
{253543007
, SNOMED-CT
}
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
{719275009
, SNOMED-CT
}
Primary refluxing megaureter (disorder)
{431981000124109
, SNOMED-CT
}
Progressive congenital rubella encephalomyelitis (disorder)
{302811004
, SNOMED-CT
}
Progressive external ophthalmoplegia, myopathy, emaciation syndrome (disorder)
{764733009
, SNOMED-CT
}
Progressive myositis ossificans (disorder)
{82725007
, SNOMED-CT
}
Progressive supranuclear palsy (disorder)
{192976002
, SNOMED-CT
}
Prominent valve of inferior vena cava (disorder)
{253340009
, SNOMED-CT
}
Pseudomonas pyocyaneus congenital infection (disorder)
{206370004
, SNOMED-CT
}
Pulmonary atresia with confluent pulmonary arteries (disorder)
{253624000
, SNOMED-CT
}
Pulmonary valve overriding ventricular septum (disorder)
{448413002
, SNOMED-CT
}
Pulmonic stenosis and congenital nephrosis (disorder)
{236530006
, SNOMED-CT
}
Pure mitochondrial myopathy (disorder)
{732245008
, SNOMED-CT
}
Pyridoxal 5-phosphate dependent epilepsy (disorder)
{724576005
, SNOMED-CT
}
Redundant prepuce (disorder)
{39526006
, SNOMED-CT
}
Regional congenital anomaly (disorder)
{105994001
, SNOMED-CT
}
Renal tubular dysgenesis caused by drug (disorder)
{1003842009
, SNOMED-CT
}
Reticulate acropigmentation of Kitamura (disorder)
{239133004
, SNOMED-CT
}
Retinal hemangioblastomatosis (disorder)
{2167004
, SNOMED-CT
}
Right atrial appendage - left - juxtaposition (disorder)
{253346003
, SNOMED-CT
}
Right atrial appendage absent (disorder)
{253345004
, SNOMED-CT
}
Right inferior vena cava connecting to left atrium and right atrium (disorder)
{448326002
, SNOMED-CT
}
Right inferior vena cava connecting to left sided atrium (disorder)
{448631009
, SNOMED-CT
}
Right ventricular myocardial sinusoids (disorder)
{448825008
, SNOMED-CT
}
Right-sided pulmonary arterial trunk (disorder)
{95242009
, SNOMED-CT
}
Rolandic epilepsy, speech dyspraxia syndrome (disorder)
{765093009
, SNOMED-CT
}
Rotation of tooth (disorder)
{38089000
, SNOMED-CT
}
Rudimentary left ventricle (disorder)
{111320008
, SNOMED-CT
}
Saccular dilatation of right superior vena cava (disorder)
{253309002
, SNOMED-CT
}
Secondary congenital megacolon (disorder)
{197140007
, SNOMED-CT
}
Segmental lymphangiomatosis (disorder)
{403547002
, SNOMED-CT
}
Short stature locking fingers syndrome (disorder)
{726734001
, SNOMED-CT
}
Shortened trunk (disorder)
{95429007
, SNOMED-CT
}
Skin damage resulting from congenital/hereditary neuropathy (disorder)
{402741006
, SNOMED-CT
}
Solitary aortic trunk with pulmonary atresia (disorder)
{253303001
, SNOMED-CT
}
Spectrin-associated autosomal recessive cerebellar ataxia (disorder)
{763351003
, SNOMED-CT
}
Spheroid body myopathy (disorder)
{765092004
, SNOMED-CT
}
Spinal hydromeningocele (disorder)
{203967002
, SNOMED-CT
}
Spinal meningocele (disorder)
{203978005
, SNOMED-CT
}
Spleen in right sided position (disorder)
{448602005
, SNOMED-CT
}
Steatocystoma multiplex (disorder)
{109433009
, SNOMED-CT
}
Stomach in central position (disorder)
{448493001
, SNOMED-CT
}
Stomach in right sided position (disorder)
{448495008
, SNOMED-CT
}
Striate palmoplantar keratoderma (disorder)
{764958008
, SNOMED-CT
}
Subarterial ventricular septal defect (disorder)
{448876006
, SNOMED-CT
}
Supramitral left atrial ring (disorder)
{253354001
, SNOMED-CT
}
Syndromic X-linked intellectual disability type 7 (disorder)
{719160009
, SNOMED-CT
}
Systemic lymphangiomatosis (disorder)
{238804007
, SNOMED-CT
}
Systemic venovenous collateral vein (disorder)
{448872008
, SNOMED-CT
}
Talipes (disorder)
{398309008
, SNOMED-CT
}
Tarsal coalition of left foot (disorder)
{15666001000119102
, SNOMED-CT
}
Tarsal coalition of right foot (disorder)
{15665961000119105
, SNOMED-CT
}
Tophus of heart co-occurrent and due to gout (disorder)
{27277001
, SNOMED-CT
}
Tricuspid but functionally bicuspid aortic valve (disorder)
{449116007
, SNOMED-CT
}
Tricuspid leaflet dysplasia (disorder)
{253375009
, SNOMED-CT
}
Tricuspid valve primary chords absent (disorder)
{447261009
, SNOMED-CT
}
Trifoliate left atrioventricular valve (disorder)
{447779007
, SNOMED-CT
}
Tripartite right ventricle (disorder)
{447943006
, SNOMED-CT
}
True cleft of common atrioventricular valve leaflet (disorder)
{253439006
, SNOMED-CT
}
Truncal valve dysplasia (disorder)
{253580001
, SNOMED-CT
}
Truncal valve overriding ventricular septum (disorder)
{449037002
, SNOMED-CT
}
Undergrowth of the thumb (disorder)
{253935007
, SNOMED-CT
}
Unipartite right ventricle (disorder)
{448574001
, SNOMED-CT
}
Unspecified anomaly of connective tissue (disorder)
{205540004
, SNOMED-CT
}
Upper esophageal web (disorder)
{11266002
, SNOMED-CT
}
Vitamin D-dependent rickets, type 1 (disorder)
{67049004
, SNOMED-CT
}
Vitamin D-dependent rickets, type 2 (disorder)
{72831007
, SNOMED-CT
}
Xeroderma, talipes and enamel defect syndrome (disorder)
{7037003
, SNOMED-CT
}
X-linked corneal dermoid (disorder)
{715426004
, SNOMED-CT
}
X-linked distal spinal muscular atrophy type 3 (disorder)
{766764008
, SNOMED-CT
}
X-linked endothelial dystrophy of cornea (disorder)
{718579008
, SNOMED-CT
}
X-linked hereditary motor and sensory neuropathy (disorder)
{230552007
, SNOMED-CT
}
X-linked intellectual disability Van Esch type (disorder)
{718914002
, SNOMED-CT
}
X-linked intellectual disability-psychosis-macroorchidism syndrome (disorder)
{702356009
, SNOMED-CT
}
X-linked neurodegenerative syndrome Bertini type (disorder)
{718849008
, SNOMED-CT
}
X-linked non progressive cerebellar ataxia (disorder)
{766818009
, SNOMED-CT
}
|