K ATP Permanent Neonatal Diabetes

Preferred Label : K ATP Permanent Neonatal Diabetes;

NCIt related terms : PNDM;

Alternative definition : NICHD: K ATP channel-associated neonatal diabetes mellitus that does not resolve spontaneously.;

NCI Metathesaurus CUI : CL514521;

Details

Origin ID

C131848;

UMLS CUI

C4321446;

Has associated anatomic sites
- Digestive System [NCIt concept]
- Pancreas [NCIt concept]
See also inter- (CISMeF)
- Diabetes mellitus, permanent neonatal, 1 [OMIM Phenotype]
- Isolated permanent neonatal diabetes mellitus [ORDO Disease]
- Permanent neonatal diabetes mellitus [ICD-11 More detail]
- permanent neonatal diabetes mellitus [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology 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]
related_to_genetic_biomarker
- ABCC8 Gene [NCIt concept]
- KCNJ11 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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