Melanoma-Pancreatic Cancer Syndrome

Preferred Label : Melanoma-Pancreatic Cancer Syndrome;

NCIt synonyms : FAMMMPC; Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome;

NCIt definition : An inherited condition caused by autosomal dominant mutation(s) in the CDKN2A gene, encoding cyclin-dependent kinase inhibitor 2A. The condition is characterized by an increased risk of developing melanoma and/or pancreatic carcinoma.;

Details

Origin ID

C176904;

UMLS CUI

C1838547;

Automatic exact mappings (from CISMeF team)
- Familial atypical multiple mole melanoma syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Melanoma-Pancreatic cancer syndrome [MeSH Supplementary Concept]
- Melanoma-Pancreatic cancer syndrome [MeSH concept]
- Melanoma-pancreatic cancer syndrome [OMIM Phenotype]
- Melanoma-pancreatic cancer syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Melanoma-Pancreatic cancer syndrome [MeSH Supplementary Concept]
- Melanoma-Pancreatic cancer syndrome [MeSH concept]
- Melanoma-pancreatic cancer syndrome [OMIM Phenotype]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_mapped_to_gene
- CDKN2A Gene [NCIt concept]
related_to_genetic_biomarker
- CDKN2A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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