Ehlers-danlos syndrome, type V

Preferred Label : Ehlers-danlos syndrome, type V;

Obsolete resource : true;

Moved to : 314400;

CISMeF acronym : EDS5;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : EDS5; Eds V;

Inheritance : X-linked recessive;

Laboratory abnormalities : Normal lysyl oxidase activity;

Prefixed ID : 305200;

Details

Origin ID

305200;

UMLS CUI

C0268341;

Automatic exact mappings (from CISMeF team)
- Energy Dispersive Spectroscopy [NCIt concept]
Currated CISMeF NLP mapping
- Ehlers-Danlos Syndrome, Type V [NCIt concept]
- Ehlers-Danlos syndrome type 5 [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome type 5 [MeSH concept]
- Ehlers-Danlos syndrome, X-linked [ICD-11 More detail]
- Ehlers-Danlos syndrome, type 5 (disorder) [SNOMED CT concept]
- X-linked Ehlers-Danlos syndrome [ORDO Disease]
- X-linked cardiac valvular dysplasia [DO Concept]
- ehlers-danlos syndrome, type 5 [SNOMED Notion]
ORDO concept(s)
- X-linked Ehlers-Danlos syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ehlers-Danlos Syndrome, Type V [NCIt 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]
- X-linked Ehlers-Danlos syndrome [ORDO Disease]
- X-linked cardiac valvular dysplasia [DO Concept]
- ehlers-danlos syndrome, type 5 [SNOMED Notion]

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