Capillary malformations, congenital

Preferred Label : Capillary malformations, congenital;

Symbol : CMC;

CISMeF acronym : CMAL; CMC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Port-wine stain; Capillary malformations; CMAL; Nevi flammei, familial multiple;

Description : Capillary malformations are a form of vascular malformation that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas (602089), which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity (Spring and Bentz, 2005; Legiehn and Heran, 2006).;

Inheritance : Autosomal dominant;

Prefixed ID : #163000;

Details

Origin ID

163000;

UMLS CUI

C0340803;

Automatic exact mappings (from CISMeF team)
- CMC Regimen [NCIt concept]
- Chronic mucocutaneous candidiasis [ORDO Disease]
- Cleveland Multiport Catheter [NCIt concept]
Currated CISMeF NLP mapping
- Capillary malformation [HPO term]
- Capillary malformation (disorder) [SNOMED CT concept]
- Familial multiple nevi flammei [ORDO Disease]
- Familial multiple nevi flammei (disorder) [SNOMED CT concept]
- Port-wine stain [ICD-11 Subcategory]
- Rare capillary malformation [ORDO Disease]
- capillary malformations, congenital, 1 [MeSH concept]
- capillary malformations, congenital, 1 [MeSH Supplementary Concept]
- familial multiple nevi flammei [DO Concept]
- nevi flammei, familial multiple [MeSH concept]
- nevi flammei, familial multiple [MeSH Supplementary Concept]
DO Cross reference
- familial multiple nevi flammei [DO Concept]
False automatic mappings
- Circulating Melanoma Cell [NCIt concept]
- Nevus flammeus [HPO term]
- PORT WINE STAIN [WHO-ART Included Term]
- Port Wine Stain [NCIt concept]
- Port wine stain [MedDRA LLT]
- Port-Wine stain [MeSH concept]
- Port-wine stain of skin (disorder) [SNOMED CT concept]
- capillary malformation [Radlex concept]
- port-wine stain [MeSH Descriptor]
Genes related to phenotype
- Guanine nucleotide-binding protein, q polypeptide [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Nevus flammeus [HPO term]
ORDO concept(s)
- Familial multiple nevi flammei [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Capillary malformation [HPO term]
- Capillary malformation [MedDRA LLT]
- Capillary malformation (disorder) [SNOMED CT concept]
- Capillary malformations [ICD-11 Subcategory]
- Rare capillary malformation [ORDO Disease]
- capillary malformations, congenital, 1 [MeSH Supplementary Concept]
- capillary malformations, congenital, 1 [MeSH concept]
Validated automatic mappings to BTNT
- nevus flammeus [Disease (Nov.)]
Validated automatic mappings to NTBT
- Capillary malformations [ICD-11 Subcategory]

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