Code System Concept

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Code System Concept

Code System Concept Code	720860004
Code System Concept Name	Ehlers-Danlos syndrome musculocontractural type (disorder)
Code System Preferred Concept Name	Ehlers-Danlos syndrome musculocontractural type (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Superseded By Concept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	01/31/2017
SDO Date Created	01/31/2017
SDO Date Revised	01/31/2017
Description	A form of Ehlers-Danlos syndrome (EDS) with characteristics of distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adducted thumb, talipes equinovarus, haemorrhagic diathesis and multisystem fragility-related manifestations.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3322323016	Ehlers-Danlos syndrome musculocontractural type	Active	Synonym	false	false
3322324010	Ehlers-Danlos syndrome Kosho type	Active	Synonym	false	false
3322325011	Adducted thumbs, arthrogryposis syndrome, Dundar type	Active	Synonym	false	false
3322326012	Ehlers-Danlos syndrome arthrogryposic type	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Congenital anomaly of bone and joint (disorder) {237513002 , SNOMED-CT } Congenital skeletal dysplasia (disorder) {105986008 , SNOMED-CT } Connective tissue hereditary disorder (disorder) {363045008 , SNOMED-CT } Distal arthrogryposis syndrome (disorder) {24269006 , SNOMED-CT } Ehlers-Danlos syndrome (disorder) {398114001 , SNOMED-CT } Hereditary disorder of the integument (disorder) {363185004 , SNOMED-CT } Inherited arthrogryposis (disorder) {28204005 , SNOMED-CT } Multiple malformation syndrome with facial defects as major feature (disorder) {65094009 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

No child concepts present.

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