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773666007: hypoglycémie hypoinsulinémique avec hémihypertrophie du corps (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3725580018 Hypoinsulinemic hypoglycemia and body hemihypertrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725581019 Hypoinsulinemic hypoglycemia and body hemihypertrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3725582014 Hypoinsulinemic hypoglycaemia and body hemihypertrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
771841000241113 hypoglycémie hypoinsulinémique avec hémihypertrophie du corps (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
966971000172110 hypoglycémie hypoinsulinémique avec hémihypertrophie du corps fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3725583016 A rare genetic endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypo ketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures. There is evidence the disease can be caused by heterozygous mutation in the AKT2 gene on chromosome 19q13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3725584010 A rare genetic endocrine disease characterised by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinaemic (or hypo ketotic hypo-fatty-acidaemic) hypoglycaemia in infancy, which results in episodes of reduced consciousness and seizures. There is evidence the disease can be caused by heterozygous mutation in the AKT2 gene on chromosome 19q13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypoinsulinemic hypoglycemia and body hemihypertrophy localisation d'une constatation (attribut) structure du pancréas endocrine true Inferred relationship Some 1
Hypoinsulinemic hypoglycemia and body hemihypertrophy est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Hypoinsulinemic hypoglycemia and body hemihypertrophy est un(e) (attribut) Digestive system hereditary disorder true Inferred relationship Some
Hypoinsulinemic hypoglycemia and body hemihypertrophy est un(e) (attribut) hypoglycémie néonatale (trouble) true Inferred relationship Some
Hypoinsulinemic hypoglycemia and body hemihypertrophy est un(e) (attribut) Neonatal disorder of endocrine system (disorder) true Inferred relationship Some
Hypoinsulinemic hypoglycemia and body hemihypertrophy est un(e) (attribut) Hypoinsulinism (disorder) true Inferred relationship Some
Hypoinsulinemic hypoglycemia and body hemihypertrophy survenue (attribut) néonatal true Inferred relationship Some 1
Hypoinsulinemic hypoglycemia and body hemihypertrophy est un(e) (attribut) troubles de l'appareil digestif spécifiques du fœtus ou du nouveau-né true Inferred relationship Some
Hypoinsulinemic hypoglycemia and body hemihypertrophy a pour interprétation (attribut) au-dessous de l'étendue de référence true Inferred relationship Some 2
Hypoinsulinemic hypoglycemia and body hemihypertrophy interprète (attribut) Blood glucose concentration true Inferred relationship Some 2
Hypoinsulinemic hypoglycemia and body hemihypertrophy est un(e) (attribut) Hereditary disorder of endocrine system (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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