Capillary Malformation-Arteriovenous Malformation Syndrome

Preferred Label : Capillary Malformation-Arteriovenous Malformation Syndrome;

NCIt synonyms : CM-AVM; Capillary Malformation-Arteriovenous Malformation;

NCIt definition : An autosomal dominant inherited vascular disorder associated with loss of function mutations in the RASA1 or EPHB4 gene, encoding Ras GTPase-activating protein 1 or ephrin type-B receptor 4, respectively. It is characterized by cutaneous capillary malformations, often in association with arteriovenous malformations and arteriovenous fistulas, which may lead to abnormal bleeding, migraine headaches, seizures, and heart failure.;

Details

Origin ID

C179668;

UMLS CUI

C1842180;

Currated CISMeF NLP mapping
- Capillary malformation-arteriovenous malformation [OMIM phenotypic series]
- Capillary malformation-arteriovenous malformation [ORDO Disease]
- Capillary malformation-arteriovenous malformation [ICD-11 More detail]
- Capillary malformation-arteriovenous malformation 1 [OMIM Phenotype]
- Capillary malformation-arteriovenous malformation syndrome (disorder) [SNOMED CT concept]
- capillary Malformation-Arteriovenous malformation [MeSH Supplementary Concept]
- capillary Malformation-Arteriovenous malformation [MeSH concept]
Has associated anatomic sites
- Cardiovascular System [NCIt concept]
- Vascular System [NCIt concept]
See also inter- (CISMeF)
- RAS p21 protein activator 1 [ORDO Gene]
- RAS p21 protein activator 1 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Capillary malformation-arteriovenous malformation syndrome (disorder) [SNOMED CT concept]
- capillary Malformation-Arteriovenous malformation [MeSH Supplementary Concept]
- capillary Malformation-Arteriovenous malformation [MeSH concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
related_to_genetic_biomarker
- EPHB4 Gene [NCIt concept]
- RASA1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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