Nevus comedonicus

Preferred Label : Nevus comedonicus;

Symbol : NC;

CISMeF acronym : NC;

Type : Phenotype, molecular basis known;

Inheritance : Somatic mutation;

Molecular basis : Caused by somatic mutation in the never in mitosis gene A-related kinase-9 gene (NEK9, 609798.0003);

Prefixed ID : #617025;

Details

Origin ID

617025;

UMLS CUI

C0265987;

Automatic exact mappings (from CISMeF team)
- Comedo naevus [ICD-11 More detail]
- Comedo nevus [PASCAL descriptor]
- N-Chimaerin [NCIt concept]
- Nevus comedonicus [HPO term]
- North Carolina [NCIt concept]
- neural crest [UBERON concept]
CISMeF manual mappings
- Nevus Comedonicus [NCIt concept]
Currated CISMeF NLP mapping
- Nevus comedonicus (disorder) [SNOMED CT concept]
- Nevus comedonicus syndrome [ORDO Disease]
- nevus comedonicus [SNOMED Notion]
False automatic mappings
- New Caledonia [NCIt concept]
Genes related to phenotype
- Nima-related kinase 9 [OMIM gene]
HPO term(s)
- Nevus comedonicus [HPO term]
- Somatic mutation [HPO term]
ORDO concept(s)
- Nevus comedonicus syndrome [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Nevus Comedonicus [NCIt concept]
- Nevus comedonicus [HPO term]
- Nevus comedonicus (disorder) [SNOMED CT concept]
- Nevus comedonicus syndrome [ORDO Disease]
- nevus comedonicus [SNOMED Notion]

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