Hyperinsulinism-hyperammonaemia syndrome

Preferred Label : Hyperinsulinism-hyperammonaemia syndrome;

ICD-11 definition : Hyperinsulinism-hyperammonemia syndrome is a rare energy metabolism disorder characterized clinically by recurrent symptomatic hyperinsulinemic hypoglycemia, mild to moderate persistent hyperammonemia which is generally asymptomatic, and generalized seizures.;

Details

Origin ID

1018988640;

UMLS CUI

C1847555;

CISMeF manual mappings
- Hyperinsulinism-hyperammonemia syndrome [ORDO Disease]
- familial hyperinsulinemic hypoglycemia 6 [DO Concept]
Currated CISMeF NLP mapping
- Glutamate Dehydrogenase 1 Hyperinsulinism [NCIt concept]
- Hyperinsulinemic hypoglycemia, familial, 6 [MeSH concept]
- Hyperinsulinemic hypoglycemia, familial, 6 [OMIM Phenotype]
- Hyperinsulinism and hyperammonemia syndrome (disorder) [SNOMED CT concept]
- Hyperinsulinism/hyperammonaemia syndrome [MedDRA LLT]
- Hyperinsulinism/hyperammonemia syndrome [MedDRA LLT]
- hyperinsulinemic hypoglycemia, familial, 6 [MeSH Supplementary 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]
- Hyperinsulinemic hypoglycemia, familial, 6 [MeSH concept]
- Hyperinsulinism and hyperammonemia syndrome (disorder) [SNOMED CT concept]
- 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]

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