FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.24  |  FHIR Version n/a  User: [n/a]

1287094005: Ehlers-Danlos-syndroom van klassiek type 2 (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5256760016 Ehlers-Danlos syndrome classic type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5256761017 Ehlers-Danlos syndrome classic type 2 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
14489051000146112 Ehlers-Danlos-syndroom van klassiek type 2 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
14489061000146110 klassieke vorm van Ehlers-Danlos-syndroom type 2 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
14489071000146116 Ehlers-Danlos-syndroom van klassiek type 2 (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
14489081000146119 cEDS type 2 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
14489091000146117 klassiek EDS type 2 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
5256762012 A rare inherited connective tissue disorder characterised by skin hyperextensibility, widened atrophic scars and generalised joint hypermobility. The disease is caused by heterozygous mutation in the collagen alpha-2(V) gene (COL5A2) on chromosome 2q31. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5256763019 A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars and generalized joint hypermobility. The disease is caused by heterozygous mutation in the collagen alpha-2(V) gene (COL5A2) on chromosome 2q31. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ehlers-Danlos syndrome classic type 2 Is a Ehlers-Danlos syndrome classic type (disorder) true Inferred relationship Some
Ehlers-Danlos syndrome classic type 2 Occurrence Congenital true Inferred relationship Some 1
Ehlers-Danlos syndrome classic type 2 Finding site Bone structure true Inferred relationship Some 1
Ehlers-Danlos syndrome classic type 2 Associated morphology Dysplasia true Inferred relationship Some 1
Ehlers-Danlos syndrome classic type 2 Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ehlers-Danlos syndrome classic type 2 Occurrence Congenital true Inferred relationship Some 2
Ehlers-Danlos syndrome classic type 2 Finding site Skin structure true Inferred relationship Some 2
Ehlers-Danlos syndrome classic type 2 Associated morphology Dysplasia true Inferred relationship Some 2
Ehlers-Danlos syndrome classic type 2 Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Ehlers-Danlos syndrome classic type 2 Occurrence Congenital true Inferred relationship Some 3
Ehlers-Danlos syndrome classic type 2 Finding site Connective tissue structure true Inferred relationship Some 3
Ehlers-Danlos syndrome classic type 2 Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Ehlers-Danlos syndrome classic type 2 Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

Back to Start