Ehlers-Danlos Syndrome, Type III

Preferred Label : Ehlers-Danlos Syndrome, Type III;

NCIt definition : Ehlers-Danlos syndrome, type III is the hypermobility type Ehlers-Danlos syndrome. In most cases, the cause is unknown. Mutations in the TNXB gene have been found in a very small percentage of cases.;

Details

Origin ID

C125698;

UMLS CUI

C0268337;

Currated CISMeF NLP mapping
- Ehlers Danlos syndrome type III [Disease (Nov.)]
- Ehlers-Danlos syndrome hypermobility type [DO Concept]
- Ehlers-Danlos syndrome type 3 [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome type 3 [MeSH concept]
- Ehlers-Danlos syndrome type III [MedDRA LLT]
- Ehlers-danlos syndrome, hypermobility type [OMIM Phenotype]
- Hypermobile Ehlers-Danlos syndrome [ORDO Disease]
- Hypermobile Ehlers-Danlos syndrome (disorder) [SNOMED CT concept]
- ehlers-danlos syndrome, type 3 [SNOMED Notion]
DO Cross reference
- Ehlers-Danlos syndrome hypermobility type [DO Concept]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ehlers Danlos syndrome type III [Disease (Nov.)]
- Ehlers-Danlos syndrome hypermobility type [DO Concept]
- Ehlers-Danlos syndrome type 3 [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome type 3 [MeSH concept]
- Ehlers-Danlos syndrome type III [MedDRA LLT]
- Ehlers-danlos syndrome, hypermobility type [OMIM Phenotype]
- Hypermobile Ehlers-Danlos syndrome [ORDO Disease]
- Hypermobile Ehlers-Danlos syndrome (disorder) [SNOMED CT concept]
- ehlers-danlos syndrome, type 3 [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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