Code System Concept

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Code System Concept

Code System Concept Code	1255121003
Code System Concept Name	Classical-like Ehlers-Danlos syndrome type 2 (disorder)
Code System Preferred Concept Name	Classical-like Ehlers-Danlos syndrome type 2 (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Superseded By Concept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	03/01/2023
SDO Date Created	10/31/2022
SDO Date Revised	10/31/2022
Description	A rare systemic disease characterised by generalised joint hypermobility with recurrent joint dislocations, redundant and hyperextensible skin with poor wound healing and abnormal scarring, easy bruising and osteopenia/osteoporosis. Additional manifestations include hypotonia, delayed motor development, foot deformities, prominent superficial veins in the chest region, vascular complications (e.g. mitral valve prolapse and aortic root dilation), hernias, dental anomalies, scoliosis, and facial dysmorphism (e.g. high palate, micrognathia, narrow palate). Mode of inheritance is autosomal recessive.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5144496010	Classical-like Ehlers-Danlos syndrome type 2	Active	Synonym	false	false
5144497018	AEBP1-related Ehlers-Danlos syndrome	Active	Synonym	false	false
5144499015	AEBP1-related EDS (Ehlers-Danlos syndrome)	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Chronic disease of skin (disorder) {128236002 , SNOMED-CT } Chronic metabolic disorder (disorder) {128289001 , SNOMED-CT } Dysplasia with decreased bone density (disorder) {254104009 , SNOMED-CT } Ehlers-Danlos syndrome (disorder) {398114001 , SNOMED-CT } Hypermobility of joint (finding) {788453008 , SNOMED-CT } Movement disorder (disorder) {60342002 , SNOMED-CT } Recurrent dislocation of joint (disorder) {5137004 , 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,