Venous malformations, multiple cutaneous and mucosal

Preferred Label : Venous malformations, multiple cutaneous and mucosal;

Symbol : VMCM;

CISMeF acronym : VMCM; VMCM1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : VMCM1;

Description : Cutaneomucosal venous malformation (VMCM) is an uncommon, heritable form of venous malformation in which lesions tend to be multifocal and small. They are comprised of grossly dilated vascular spaces lined by a single continuous layer of endothelial cells, with areas of relative lack of surrounding mural cells, suggesting a defect in their recruitment. Some;

Inheritance : Autosomal dominant (9p);

Prefixed ID : #600195;

Détails

Origin ID

600195;

UMLS CUI

C1838437;

Automatic exact mappings (from CISMeF team)
- Multiple venous malformation of skin and mucous membrane (disorder) [SNOMED CT concept]
- TEK receptor tyrosine kinase [ORDO Gene]
- TEK wt Allele [NCIt concept]
- symbol withdrawn VMCM [HGNC gene]
Currated CISMeF NLP mapping
- Mucocutaneous venous malformations [ORDO Disease]
- multiple cutaneous and mucosal venous malformations [DO Concept]
- venous malformations, multiple cutaneous and mucosal [MeSH concept]
- venous malformations, multiple cutaneous and mucosal [MeSH Supplementary Concept]
DO Cross reference
- multiple cutaneous and mucosal venous malformations [DO Concept]
Genes related to phenotype
- Tek tyrosine kinase, endothelial [OMIM gene]
HPO term(s)
- Abnormality of the mouth [HPO term]
- Autosomal dominant inheritance [HPO term]
- Intestinal bleeding [HPO term]
- Venous malformation [HPO term]
ORDO concept(s)
- Mucocutaneous venous malformations [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Mucocutaneous venous malformations [ORDO Disease]
- Multiple venous malformation of skin and mucous membrane (disorder) [SNOMED CT concept]
- multiple cutaneous and mucosal venous malformations [DO Concept]
- venous malformations, multiple cutaneous and mucosal [MeSH Supplementary Concept]
- venous malformations, multiple cutaneous and mucosal [MeSH concept]

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