congenital hyperinsulinism

Preferred Label : congenital hyperinsulinism;

MeSH definition : A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated INSULIN release. Clinical phenotypes include HYPOGLYCEMIA; HYPERINSULINEMIA; SEIZURES; COMA; and often large BIRTH WEIGHT. Several sub-types exist with the most common, type 1, associated with mutations on an ATP-BINDING CASSETTE TRANSPORTERS (subfamily C, member 8).;

MeSH synonym : hyperinsulinemia hypoglycemia of infancy; hyperinsulinism, congenital; infancy hyperinsulinemia hypoglycemia; phhi hypoglycemia; hypoglycemia, phhi; congenital hyperinsulinisms; hyperinsulinisms, congenital; hypoglycemias, PHHI; PHHI hypoglycemias; hypoglycemia, hyperinsulinemic, of infancy; infancy hyperinsulinemia hypoglycemias; persistent hyperinsulinemia hypoglycemia of infancy; hyperinsulinemic hypoglycemia, persistent; hyperinsulinemic hypoglycemias, persistent; hypoglycemia, persistent hyperinsulinemic; hypoglycemias, persistent hyperinsulinemic; persistent hyperinsulinemic hypoglycemias; hyperinsulinism, familial; familial hyperinsulinisms; hyperinsulinisms, familial; neonatal hyperinsulinism; persistent hyperinsulinemic hypoglycemia; familial hyperinsulinism; hyperinsulinism, neonatal; hyperinsulinisms, neonatal; neonatal hyperinsulinisms;

MeSH hyponym : familial hyperinsulinemic hypoglycemia 1; Hyperinsulinemic hypoglycemia, familial, 2; Hyperinsulinemic Hypoglycemia, Familial, 1; Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia;

Details

Origin ID

D044903;

UMLS CUI

C3888018;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Familial hyperinsulinism [ORDO Disease]
- Hyperinsulinemic hypoglycemia, familial, 2 [OMIM Phenotype]
- hyperinsulinemic hypoglycemia [DO Concept]
CISMeF manual mappings
- PHHI - Persistent hyperinsulinemic hypoglycemia of infancy (disorder) [Inactive SNOMED CT concept]
Currated CISMeF NLP mapping
- Congenital Hyperinsulinism [NCIt concept]
- Congenital isolated hyperinsulinism [ORDO Disease]
- Hyperinsulinemic hypoglycemia, familial, 1 [OMIM Phenotype]
- Nesidioblastosis [NCIt concept]
- Persistent Hyperinsulinemic Hypoglycemia of Infancy [NCIt concept]
- Persistent hyperinsulinemic hypoglycemia of infancy (disorder) [SNOMED CT concept]
Manual BTNT mappings - CISMeF
- Adenoma of pancreas [ORDO Disease]
- Diazoxide-resistant focal hyperinsulinism [ORDO Disease]
- Exercise-induced hyperinsulinism [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Channelopathy due to an inwardly rectifying potassium channel defect [ORDO Disease]
- Overgrowth syndrome [ORDO Disease]
- Rare endocrine disease [ORDO Disease]
- Rare genetic endocrine disease [ORDO Disease]
ORDO relation(s)
- Congenital isolated hyperinsulinism [ORDO Disease]
Record concept(s)
- Hyperinsulinemic hypoglycemia, familial, 2 [MeSH concept]
- congenital hyperinsulinism [MeSH concept]
- familial hyperinsulinemic hypoglycemia 1 [MeSH concept]
See also
- ATP-Binding cassette transporters [MeSH Descriptor]
- potassium channels, inwardly rectifying [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Hyperinsulinism [NCIt concept]
- Persistent Hyperinsulinemic Hypoglycemia of Infancy [NCIt concept]
- Persistent hyperinsulinemic hypoglycemia of infancy (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- familial hyperinsulinemic hypoglycemia 1 [DO Concept]
- familial hyperinsulinemic hypoglycemia 2 [DO Concept]
- persistent hyperinsulinemia hypoglycemia of infancy [Disease (Nov.)]

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