hyperinsulinemic hypoglycemia, familial, 6

Preferred Label : hyperinsulinemic hypoglycemia, familial, 6;

Définition CISMeF : Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.;

MeSH synonym : hyperinsulinism-hyperammonemia syndrome;

Details

Origin ID

C538375;

UMLS CUI

C1847555;

Automatic exact mappings (from CISMeF team)
- hyperinsulinism-hyperammonemia syndrome [Artificial nutrition thesaurus concept]
CISMeF manual mappings
- Hyperinsulinism-hyperammonemia syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Glutamate Dehydrogenase 1 Hyperinsulinism [NCIt concept]
- Hyperinsulinemic hypoglycemia, familial, 6 [OMIM Phenotype]
- Hyperinsulinism and hyperammonemia syndrome (disorder) [SNOMED CT concept]
- Hyperinsulinism-hyperammonaemia syndrome [ICD-11 More detail]
- Hyperinsulinism/hyperammonaemia syndrome [MedDRA LLT]
- Hyperinsulinism/hyperammonemia syndrome [MedDRA LLT]
- familial hyperinsulinemic hypoglycemia 6 [DO Concept]
MeSH term(s) associated for indexing
- hyperinsulinism [MeSH Descriptor]
- hypoglycemia [MeSH Descriptor]
Record concept(s)
- Hyperinsulinemic hypoglycemia, familial, 6 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glutamate Dehydrogenase 1 Hyperinsulinism [NCIt concept]
- Hyperinsulinemic hypoglycemia, familial, 6 [OMIM Phenotype]
- 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]

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