Ehlers-Danlos Syndrome, Type IV

Preferred Label : Ehlers-Danlos Syndrome, Type IV;

NCIt definition : Ehlers-Danlos syndrome, type IV is the vascular type Ehlers-Danlos syndrome. It results from mutations in the COL3A1 gene.;

Details

Origin ID

C125699;

UMLS CUI

C0268338;

Automatic exact mappings (from CISMeF team)
- Ehlers-Danlos Syndrome, Type IV [MeSH Descriptor]
- ehlers-danlos syndrome [MeSH Descriptor]
CISMeF manual mappings
- Ehlers Danlos syndrome type IV [Disease (Nov.)]
Currated CISMeF NLP mapping
- Ehlers-Danlos Syndrome, Type IV [MeSH Descriptor]
- Ehlers-Danlos syndrome, type 4 (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome, type IV [MeSH concept]
- Ehlers-Danlos syndrome, vascular type [ICD-11 More detail]
- Ehlers-danlos syndrome, vascular type [OMIM Phenotype]
- Vascular Ehlers-Danlos syndrome [ORDO Disease]
- ehlers-danlos syndrome, type 4 [SNOMED Notion]
- vascular type Ehlers-Danlos syndrome [DO Concept]
DO Cross reference
- vascular type Ehlers-Danlos syndrome [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 IV [Disease (Nov.)]
- Ehlers-Danlos Syndrome, Type IV [MeSH Descriptor]
- Ehlers-Danlos syndrome, type 4 (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome, type IV [MeSH concept]
- Ehlers-Danlos syndrome, vascular type [ICD-11 More detail]
- Ehlers-danlos syndrome, vascular type [OMIM Phenotype]
- Vascular Ehlers-Danlos syndrome [ORDO Disease]
- ehlers-danlos syndrome, type 4 [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- COL3A1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients