Multiple Endocrine Neoplasia Type 4

Preferred Label : Multiple Endocrine Neoplasia Type 4;

NCIt synonyms : Multiple Endocrine Neoplasia Type 1-Like Syndrome; MEN 4;

NCIt definition : An autosomal dominant tumor syndrome caused by germline CDKN1B mutations that result in a phenotype similar to that of multiple endocrine neoplasia type 1, characterized by endocrine neoplasms, particularly in the parathyroid glands, pituitary, and pancreas. (WHO 2017);

Neoplastic status : Undetermined;

Détails

Origin ID

C157449;

UMLS CUI

C1970712;

Currated CISMeF NLP mapping
- Multiple endocrine neoplasia type 4 [ICD-11 More detail]
- Multiple endocrine neoplasia type 4 [ORDO Disease]
- Multiple endocrine neoplasia type 4 (disorder) [SNOMED CT concept]
- Multiple endocrine neoplasia, type iv [OMIM Phenotype]
- multiple endocrine neoplasia type 4 [DO Concept]
- multiple endocrine neoplasia, type IV [MeSH Supplementary Concept]
- multiple endocrine neoplasia, type IV [MeSH concept]
Disease excludes normal cell origin
- Thyroid Gland Follicular Cell [NCIt concept]
Has associated anatomic sites
- Endocrine Gland [NCIt concept]
- Endocrine System [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Multiple endocrine neoplasia type 4 (disorder) [SNOMED CT concept]
- Multiple endocrine neoplasia, type iv [OMIM Phenotype]
- multiple endocrine neoplasia type 4 [DO Concept]
- multiple endocrine neoplasia, type IV [MeSH Supplementary Concept]
- multiple endocrine neoplasia, type IV [MeSH concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_has_abnormal_cell
- Neoplastic Cell [NCIt concept]
disease_has_finding
- Multifocal Lesion [NCIt concept]
disease_has_molecular_abnormality
- CDKN1B Gene Mutation [NCIt concept]
disease_has_primary_anatomic_site
- Endocrine Gland [NCIt concept]
disease_mapped_to_gene
- CDKN1B Gene [NCIt concept]
disease_may_have_associated_disease
- Pancreatic Neuroendocrine Neoplasm [NCIt concept]
- Parathyroid Gland Adenoma [NCIt concept]
- Pituitary Neuroendocrine Tumor [NCIt concept]
pathogenesis_of_disease_involves_gene
- CDKN1B Gene [NCIt concept]
- CDKN1B wt Allele [NCIt concept]
related_to_genetic_biomarker
- CDKN1B Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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