Code System Concept

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Code System Concept

Code System Concept Code	778022009
Code System Concept Name	Classical-like Ehlers-Danlos syndrome type 1 (disorder)
Code System Preferred Concept Name	Classical-like Ehlers-Danlos syndrome type 1 (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Superseded By Concept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	01/31/2019
SDO Date Created	01/31/2019
SDO Date Revised	01/31/2019
Description	A type of Ehlers-Danlos syndrome characterised by generalised joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Caused by homozygous or heterozygous mutation in the tenascin-XB gene on chromosome 6p21.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3737231017	Ehlers-Danlos syndrome due to tenascin-X deficiency	Active	Synonym	false	false
3737233019	Ehlers-Danlos syndrome classic-like type	Active	Synonym	false	false
5250201010	Classical-like Ehlers-Danlos syndrome type 1	Active	Synonym	false	false

Associated Value Sets

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

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Connective tissue hereditary disorder (disorder) {363045008 , SNOMED-CT } Ehlers-Danlos syndrome (disorder) {398114001 , SNOMED-CT } Hereditary disorder of musculoskeletal system (disorder) {363212003 , SNOMED-CT } Hereditary disorder of the integument (disorder) {363185004 , 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,