Code System Concept

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Code System Concept

Code System Concept Code	398114001
Code System Concept Name	Ehlers-Danlos syndrome (disorder)
Code System Preferred Concept Name	Ehlers-Danlos syndrome (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	07/31/2003
SDO Date Created	07/31/2003
SDO Date Revised	07/31/2003
Description
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
1777678019	Ehlers-Danlos syndrome	Active	Synonym	false	false
1786113017	Cutis hyperelastica dermatorrhexis	Active	Synonym	false	false
1786114011	Dystrophia mesodermalis congenita	Active	Synonym	false	false
1786115012	India rubber skin	Active	Synonym	false	false
1786116013	Dermatorrhexis with dermatochalasis AND arthrochalasis	Active	Synonym	false	false
1786117016	Hereditary collagen dysplasia	Active	Synonym	false	false
1786118014	Meekeren-Ehlers-Danlos syndrome	Active	Synonym	false	false
1786119018	Cutis elastica	Active	Synonym	false	false
1786120012	Cutis hyperelastica	Active	Synonym	false	false
1786121011	Danlos disease	Active	Synonym	false	false
1786122016	Fibrodysplasia elastica generalisata	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Birth Defect Diagnosis	1
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7 , 6 , 5 , 4 , 3 , 2 , 1
Problem Value Set	3 , 2 , 1

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Congenital anomaly of skeletal bone (disorder) {8447006 , SNOMED-CT } Congenital anomaly of skin (disorder) {199879009 , SNOMED-CT } Congenital connective tissue disorder (disorder) {363039000 , SNOMED-CT } Congenital skeletal dysplasia (disorder) {105986008 , SNOMED-CT } Connective tissue hereditary disorder (disorder) {363045008 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Hereditary disorder of musculoskeletal system (disorder) {363212003 , SNOMED-CT } Hereditary disorder of the integument (disorder) {363185004 , SNOMED-CT } Inherited disorder of connective tissue (disorder) {240259000 , SNOMED-CT } Metabolic bone disease (disorder) {50279003 , SNOMED-CT } Metabolic disease of collagen (disorder) {73873008 , SNOMED-CT } Musculoskeletal and connective tissue disorder (disorder) {312225001 , SNOMED-CT } Skin lesion (disorder) {95324001 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

Ehlers-Danlos syndrome (disorder) {398114001 , SNOMED-CT }

Parent/Child (Relationship Type)

Arthrochalasia Ehlers-Danlos syndrome (disorder) {55711009 , SNOMED-CT } Brittle cornea syndrome (disorder) {719096006 , SNOMED-CT } Classical-like Ehlers-Danlos syndrome type 1 (disorder) {778022009 , SNOMED-CT } Classical-like Ehlers-Danlos syndrome type 2 (disorder) {1255121003 , SNOMED-CT } Cutis laxa, x-linked (disorder) {59399004 , SNOMED-CT } Dermatosparaxis Ehlers-Danlos syndrome (disorder) {1237225007 , SNOMED-CT } Ehlers-Danlos and osteogenesis imperfecta syndrome (disorder) {733457006 , SNOMED-CT } Ehlers-Danlos syndrome cardiac valvular type (disorder) {720858001 , SNOMED-CT } Ehlers-Danlos syndrome classic type (disorder) {715318006 , SNOMED-CT } Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) {720859009 , SNOMED-CT } Ehlers-Danlos syndrome kyphoscoliotic type (disorder) {718211004 , SNOMED-CT } Ehlers-Danlos syndrome musculocontractural type (disorder) {720860004 , SNOMED-CT } Ehlers-Danlos syndrome progeroid type (disorder) {720861000 , SNOMED-CT } Ehlers-Danlos syndrome spondylocheirodysplastic type (disorder) {773276004 , SNOMED-CT } Ehlers-Danlos syndrome vascular-like type (disorder) {720862007 , SNOMED-CT } Ehlers-Danlos syndrome with periventricular heterotopia (disorder) {720857006 , SNOMED-CT } Ehlers-Danlos syndrome, dysfibronectinemic (disorder) {83586000 , SNOMED-CT } Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) {25606004 , SNOMED-CT } Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type (disorder) {10033001 , SNOMED-CT } Ehlers-Danlos syndrome, procollagen proteinase resistant (disorder) {4170004 , SNOMED-CT } Ehlers-Danlos syndrome, type 1 (disorder) {83470009 , SNOMED-CT } Ehlers-Danlos syndrome, type 2 (disorder) {20766005 , SNOMED-CT } Familial articular hypermobility syndrome (disorder) {71322004 , SNOMED-CT } Hypermobile Ehlers-Danlos syndrome (disorder) {30652003 , SNOMED-CT } Myopathic Ehlers-Danlos syndrome (disorder) {1255116001 , SNOMED-CT } Periodontal Ehlers-Danlos syndrome (disorder) {50869007 , SNOMED-CT } Spondylodysplastic Ehlers-Danlos syndrome (disorder) {1251488008 , SNOMED-CT } Vascular Ehlers-Danlos syndrome (disorder) {17025000 , SNOMED-CT } X-linked Ehlers-Danlos syndrome (disorder) {67202007 , SNOMED-CT }

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,