Melanocytic nevus syndrome, congenital

Preferred Label : Melanocytic nevus syndrome, congenital;

Symbol : CMNS;

CISMeF acronym : CMNS; GPHN;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Giant pigmented hairy nevus; Giant congenital pigmented nevus; Pigmented moles; GPHN;

Included titles and symbols : Nevus spilus; Spitz nevus;

Description : Giant pigmented hairy nevus (GHPN) is a congenital melanocytic lesion, which despite its name may not be hairy. These nevi are significant because of the risk of malignant transformation (summary by Ho et al., 1999).;

Inheritance : Somatic mutation;

Molecular basis : Caused by somatic mutation in the NRAS proto-oncogene, GTPase gene (NRAS, 164790.0002); Caused by somatic mutation in the HRas proto-oncogene, GTPase gene (HRAS, 190020.0017);

Neoplasia : Susceptibility to malignant melanoma;

Prefixed ID : #137550;

Details

Origin ID

137550;

UMLS CUI

C1842036;

Automatic exact mappings (from CISMeF team)
- Congenital giant melanocytic nevus [HPO term]
- Epithelioid and spindle cell naevus [ICD-11 Extension code]
- Epithelioid and spindle cell nevus (disorder) [SNOMED CT concept]
- Epithelioid and spindle cell nevus (morphologic abnormality) [SNOMED CT concept]
- GPHN Gene [NCIt concept]
- Gephyrin [NCIt concept]
- Giant pigmented nevus (morphologic abnormality) [SNOMED CT concept]
- Juvenile melanoma benign [MedDRA Preferred Term]
- NRAS wt Allele [NCIt concept]
- Nevus Spilus [NCIt concept]
- Nevus spilus [HPO term]
- Nevus spilus (disorder) [SNOMED CT concept]
- Spitz Nevus [NCIt concept]
- Spitz nevus [MedDRA LLT]
- Spitz nevus [PASCAL descriptor]
- gephyrin [ORDO Gene]
- large congenital melanocytic nevus [DO Concept]
- nevus, epithelioid and spindle cell [MeSH Descriptor]
- nevus, pigmented [MeSH Descriptor]
Currated CISMeF NLP mapping
- Large congenital melanocytic nevus [ORDO Disease]
- Melanocytic nevus syndrome, congenital [MeSH concept]
- Melanocytic nevus syndrome, congenital [MeSH Supplementary Concept]
DO Cross reference
- large congenital melanocytic nevus [DO Concept]
Genes related to phenotype
- Hras protooncogene, gtpase [OMIM gene]
- Nras protooncogene, gtpase [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Broad forehead [HPO term]
- Broad nasal tip [HPO term]
- Congenital giant melanocytic nevus [HPO term]
- Congenital onset [HPO term]
- Cutaneous melanoma [HPO term]
- Deep philtrum [HPO term]
- Everted lower lip vermilion [HPO term]
- Full cheeks [HPO term]
- Hypertelorism [HPO term]
- Long philtrum [HPO term]
- Narrow nasal ridge [HPO term]
- Nevus spilus [HPO term]
- Open mouth [HPO term]
- Periorbital fullness [HPO term]
- Prominence of the premaxilla [HPO term]
- Prominent forehead [HPO term]
- Round face [HPO term]
- Short nose [HPO term]
- Somatic mutation [HPO term]
ORDO concept(s)
- Large congenital melanocytic nevus [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital giant melanocytic nevus [HPO term]
- Congenital giant pigmented nevus of skin (disorder) [SNOMED CT concept]
- Giant Congenital Nevus [NCIt concept]
- Giant pigmented nevus (morphologic abnormality) [SNOMED CT concept]
- Large congenital melanocytic nevus [ORDO Disease]
- Large congenital pigmented melanocytic nevus of skin (disorder) [SNOMED CT concept]
- Melanocytic nevus syndrome, congenital [MeSH Supplementary Concept]
- Melanocytic nevus syndrome, congenital [MeSH concept]
- giant pigmented nevus, nos [SNOMED Notion]

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