Permanent Neonatal Diabetes Mellitus

Preferred Label : Permanent Neonatal Diabetes Mellitus;

NCIt definition : Hyperglycemia in the first month of life due to a genetically determined defect in the structure, secretion and/or function of insulin that does not resolve spontaneously.;

Alternative definition : NICHD: Monogenic neonatal diabetes mellitus that does not resolves spontaneously.;

NCI Metathesaurus CUI : CL1639304;

Details

Origin ID

C114902;

UMLS CUI

C1833104;

Currated CISMeF NLP mapping
- Diabetes mellitus, permanent neonatal [OMIM phenotypic series]
- Isolated permanent neonatal diabetes mellitus [ORDO Disease]
- Permanent neonatal diabetes mellitus [ICD-11 More detail]
- Permanent neonatal diabetes mellitus (disorder) [SNOMED CT concept]
- diabetes mellitus, permanent neonatal [MeSH Supplementary Concept]
- diabetes mellitus, permanent neonatal [MeSH concept]
- permanent neonatal diabetes [Disease (Nov.)]
- permanent neonatal diabetes mellitus [DO Concept]
Has associated anatomic sites
- Digestive System [NCIt concept]
- Pancreas [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Diabetes mellitus, permanent neonatal, 1 [OMIM Phenotype]
- Isolated permanent neonatal diabetes mellitus [ORDO Disease]
- Permanent neonatal diabetes mellitus (disorder) [SNOMED CT concept]
- diabetes mellitus, permanent neonatal [MeSH Supplementary Concept]
- diabetes mellitus, permanent neonatal [MeSH concept]
- permanent neonatal diabetes [Disease (Nov.)]
- permanent neonatal diabetes mellitus [DO Concept]
Validated automatic mappings to BTNT
- Diabetes mellitus, permanent neonatal, 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
- Perinatal 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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