Congenital Hyperinsulinism

Preferred Label : Congenital Hyperinsulinism;

NCIt related terms : Hyperinsulinemia of Infancy; Neonatal Hyperinsulinism; Nesidioblastosis; Hyperinsulinemic Hypoglycemia; HHI;

NCIt definition : An etiologically heterogenous condition resulting in dysregulated insulin secretion whose cause is present from birth. It is the most common cause of persistent hypoglycemia in neonates, infants and children.;

NCI Metathesaurus CUI : CL521303;

Détails

Origin ID

C131425;

UMLS CUI

C3888018;

Automatic exact mappings (from CISMeF team)
- Hyperinsulinemic hypoglycaemia [ORDO Disease]
- Hyperinsulinemic hypoglycemia [MedDRA LLT]
- Hyperinsulinemic hypoglycemia [HPO term]
- Hyperinsulinemic hypoglycemia, familial, 2 [OMIM Phenotype]
- Nesidioblastosis [MedDRA Preferred Term]
- hyperinsulinemic hypoglycemia [DO Concept]
Currated CISMeF NLP mapping
- Hyperinsulinemic hypoglycemia, familial, 1 [OMIM Phenotype]
- Islet cell hyperplasia (disorder) [SNOMED CT concept]
- Persistent hyperinsulinemic hypoglycemia of infancy (disorder) [SNOMED CT concept]
- congenital hyperinsulinism [MeSH concept]
- congenital hyperinsulinism [MeSH Descriptor]
- nesidioblastosis [MeSH concept]
- nesidioblastosis [MeSH Descriptor]
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]
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]
- 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]

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

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