Glutamate Dehydrogenase 1 Hyperinsulinism

Preferred Label : Glutamate Dehydrogenase 1 Hyperinsulinism;

NCIt related terms : GLUD1 Hyperinsulinism; Hyperinsulinism/Hyperammonemia Syndrome; GDH Hyperinsulinism;

Alternative definition : NICHD: Hyperinsulinism due to activating mutation(s) in the GLUD1 gene, encoding glutamate dehydrogenase 1. This condition is characterized by protein induced hypoglycemia and hyperammonemia, which is presumed to be due to increased ammonia production in the kidney.;

Détails

Origin ID

C131832;

UMLS CUI

C1847555;

Currated CISMeF NLP mapping
- Hyperinsulinemic hypoglycemia, familial, 6 [OMIM Phenotype]
- Hyperinsulinemic hypoglycemia, familial, 6 [MeSH concept]
- Hyperinsulinism and hyperammonemia syndrome (disorder) [SNOMED CT concept]
- Hyperinsulinism-hyperammonaemia syndrome [ICD-11 More detail]
- Hyperinsulinism-hyperammonemia syndrome [ORDO Disease]
- Hyperinsulinism/hyperammonaemia syndrome [MedDRA LLT]
- Hyperinsulinism/hyperammonemia syndrome [MedDRA LLT]
- familial hyperinsulinemic hypoglycemia 6 [DO Concept]
- hyperinsulinemic hypoglycemia, familial, 6 [MeSH Supplementary Concept]
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)
- Hyperinsulinemic hypoglycemia, familial, 6 [OMIM Phenotype]
- Hyperinsulinemic hypoglycemia, familial, 6 [MeSH concept]
- Hyperinsulinism and hyperammonemia syndrome (disorder) [SNOMED CT concept]
- Hyperinsulinism-hyperammonaemia syndrome [ICD-11 More detail]
- Hyperinsulinism-hyperammonemia syndrome [ORDO Disease]
- Hyperinsulinism/hyperammonaemia syndrome [MedDRA LLT]
- Hyperinsulinism/hyperammonemia syndrome [MedDRA LLT]
- familial hyperinsulinemic hypoglycemia 6 [DO Concept]
- hyperinsulinemic hypoglycemia, familial, 6 [MeSH Supplementary Concept]
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]
disease_mapped_to_gene
- GLUD1 Gene [NCIt concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients