Ehlers-Danlos Syndrome, Type I

Preferred Label : Ehlers-Danlos Syndrome, Type I;

NCIt definition : A classic type of Ehlers-Danlos syndrome resulting from autosomal dominant mutation(s) in the COL5A1 gene, encoding collagen alpha-1(V) chain.;

Details

Origin ID

C125696;

UMLS CUI

C0268335;

Currated CISMeF NLP mapping
- Ehlers-Danlos syndrome classic type 1 [DO Concept]
- Ehlers-Danlos syndrome type 1 [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome, type 1 (disorder) [SNOMED CT concept]
- Ehlers-danlos syndrome, classic type, 1 [OMIM Phenotype]
DO Cross reference
- Ehlers-Danlos syndrome classic type 1 [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 classic type 1 [DO Concept]
- Ehlers-Danlos syndrome type 1 [ORDO Disease]
- Ehlers-Danlos syndrome type 1 [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome type 1 [MeSH concept]
- Ehlers-Danlos syndrome, type 1 (disorder) [SNOMED CT concept]
- Ehlers-danlos syndrome, classic type, 1 [OMIM Phenotype]
- ehlers-danlos syndrome, type 1 [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- COL5A1 Gene [NCIt concept]
related_to_genetic_biomarker
- COL5A1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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