Ehlers-Danlos Syndrome, Type V

Preferred Label : Ehlers-Danlos Syndrome, Type V;

NCIt definition : An X-linked condition characterized by joint hyperextensibility, mild skin hyperelastisity, and abnormal scarring. The molecular basis for this condition has not been fully elucidated.;

Détails

Origin ID

C141423;

UMLS CUI

C0268341;

Currated CISMeF NLP mapping
- Ehlers-Danlos syndrome type 5 [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome type 5 [MeSH concept]
- Ehlers-Danlos syndrome, type 5 (disorder) [SNOMED CT concept]
- Ehlers-danlos syndrome, type V [OMIM Phenotype]
- X-linked Ehlers-Danlos syndrome [ORDO Disease]
- X-linked cardiac valvular dysplasia [DO Concept]
- ehlers-danlos syndrome, type 5 [SNOMED Notion]
DO Cross reference
- X-linked cardiac valvular dysplasia [DO Concept]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
See also inter- (CISMeF)
- Cardiac valvular dysplasia, X-linked [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ehlers-Danlos syndrome type 5 [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome type 5 [MeSH concept]
- Ehlers-Danlos syndrome, type 5 (disorder) [SNOMED CT concept]
- Ehlers-danlos syndrome, type V [OMIM Phenotype]
- X-linked Ehlers-Danlos syndrome [ORDO Disease]
- X-linked cardiac valvular dysplasia [DO Concept]
- ehlers-danlos syndrome, type 5 [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
related_to_genetic_biomarker
- FLNA Gene [NCIt concept]

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