Persistent Hyperinsulinemic Hypoglycemia of Infancy

Preferred Label : Persistent Hyperinsulinemic Hypoglycemia of Infancy;

NCIt synonyms : PHHI; HHF1; Familial Hyperinsulinemic Hypoglycemia-1;

NCIt definition : A genetic condition caused by mutation(s) in the ABCC8 gene, encoding ATP-binding cassette sub-family C member 8.;

Détails

Origin ID

C122923;

UMLS CUI

C3888018;

Automatic exact mappings (from CISMeF team)
- Hyperinsulinemic hypoglycemia, familial, 2 [OMIM Phenotype]
Currated CISMeF NLP mapping
- Congenital isolated hyperinsulinism [ORDO Disease]
- Hyperinsulinemic hypoglycemia, familial, 1 [OMIM Phenotype]
- Persistent hyperinsulinaemic hypoglycaemia of infancy [ICD-11 Category]
- Persistent hyperinsulinemic hypoglycemia of infancy (disorder) [SNOMED CT concept]
- congenital hyperinsulinism [MeSH Descriptor]
- familial hyperinsulinemic hypoglycemia 1 [DO Concept]
Has associated anatomic sites
- Digestive System [NCIt concept]
- Endocrine Gland [NCIt concept]
- Endocrine System [NCIt concept]
- Pancreas [NCIt concept]
See also inter- (CISMeF)
- ATP binding cassette subfamily C member 8 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Persistent hyperinsulinemic hypoglycemia of infancy (disorder) [SNOMED CT concept]
- congenital hyperinsulinism [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease 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]
disease_mapped_to_gene
- ABCC8 Gene [NCIt concept]

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

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