Concept information
Término preferido
Congenital Hyperinsulinism
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Tipo
-
mesh:Descriptor
Definición
- 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).
Concepto genérico
Conceptos específicos
Etiquetas alternativas
- Familial Hyperinsulinism
- Hyperinsulinemia Hypoglycemia of Infancy
- Hyperinsulinemic Hypoglycemia, Persistent
- Hyperinsulinism, Congenital
- Hyperinsulinism, Familial
- Hyperinsulinism, Neonatal
- Hypoglycemia, Hyperinsulinemic, of Infancy
- Infancy Hyperinsulinemia Hypoglycemia
- Neonatal Hyperinsulinism
- Persistent Hyperinsulinemia Hypoglycemia of Infancy
- Persistent Hyperinsulinemic Hypoglycemia
- PHHI Hypoglycemia
En otras lenguas
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francés
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HHPE
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Hyperinsulinisme congénital de l'enfant
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Hypoglycémie hyperinsulinique persistante de l'enfance
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Hypoglycémie hyperinsulinique persistante du nourrisson
URI
http://data.loterre.fr/ark:/67375/JVR-BJNLVHHD-T
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