Maturity-Onset Diabetes of the Young

Preferred Label : Maturity-Onset Diabetes of the Young;

NCIt synonyms : Maturity Onset Diabetes of the Young; MODY;

NCIt definition : A rare autosomal dominant form of diabetes mellitus affecting young people with a positive family history. MODY is a form of monogenic diabetes, resulting from mutations in a single gene. The most common forms are HNF1alpha-MODY (MODY3) and GCK-MODY (MODY2), due to mutations in the HNF1A and GCK genes, respectively.;

Details

Origin ID

C114769;

UMLS CUI

C0342276;

Automatic exact mappings (from CISMeF team)
- diabetes mellitus, type 2 [MeSH Descriptor]
Currated CISMeF NLP mapping
- MODY [ORDO Disease]
- Mason-Type diabetes [MeSH Supplementary Concept]
- Mason-Type diabetes [MeSH concept]
- Maturity onset diabetes mellitus in young (disorder) [Inactive SNOMED CT concept]
- Maturity onset diabetes of the young [PASCAL descriptor]
- Maturity-onset diabetes of the young [HPO term]
- Maturity-onset diabetes of the young [OMIM Phenotype]
- Maturity-onset diabetes of the young [MedDRA LLT]
- Maturity-onset diabetes of the young (disorder) [SNOMED CT concept]
- maturity onset diabetes mellitus in young [SNOMED Notion]
- maturity onset diabetes of the young [Disease (Nov.)]
- maturity-onset diabetes of the young [DO Concept]
Has associated anatomic sites
- Digestive System [NCIt concept]
- Pancreas [NCIt concept]
See also inter- (CISMeF)
- hepatocyte nuclear factor 4 alpha [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MODY [ORDO Disease]
- Mason-Type diabetes [MeSH Supplementary Concept]
- Mason-Type diabetes [MeSH concept]
- Maturity onset diabetes mellitus in young (disorder) [Inactive SNOMED CT concept]
- Maturity onset diabetes of the young [PASCAL descriptor]
- Maturity-onset diabetes of the young [OMIM Phenotype]
- Maturity-onset diabetes of the young [HPO term]
- Maturity-onset diabetes of the young [MedDRA LLT]
- Maturity-onset diabetes of the young (disorder) [SNOMED CT concept]
- maturity onset diabetes mellitus in young [SNOMED Notion]
- maturity onset diabetes of the young [Disease (Nov.)]
- maturity-onset diabetes of the young [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_normal_cell_origin
- Islet Cell [NCIt concept]
disease_has_normal_tissue_origin
- Islet of Langerhans [NCIt concept]
disease_has_primary_anatomic_site
- Digestive System [NCIt concept]
- Islet of Langerhans [NCIt concept]

Keyword's position in hierarchy(ies) :

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