KATP-Associated Hyperinsulinism

Preferred Label : KATP-Associated Hyperinsulinism;

Alternative definition : NICHD: Hyperinsulinism caused by non-functional beta-cell ATP-sensitive potassium channels due to inactivating mutation(s) in either the ABCC8 or KCNJ11 gene.;

NCI Metathesaurus CUI : CL514522;

Détails

Origin ID

C131842;

UMLS CUI

C4330510;

Has associated anatomic sites
- Digestive System [NCIt concept]
- Endocrine Gland [NCIt concept]
- Endocrine System [NCIt concept]
- Pancreas [NCIt 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]
- Endocrine System [NCIt concept]
- Islet of Langerhans [NCIt concept]
- Pancreas [NCIt concept]
related_to_genetic_biomarker
- ABCC8 Gene [NCIt concept]
- KCNJ11 Gene [NCIt concept]

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

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