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773666007: Hypoinsulinemic hypoglycemia and body hemihypertrophy (disorder)


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
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 Finding site Endocrine pancreatic structure true Inferred relationship Some 1
Hypoinsulinemic hypoglycemia and body hemihypertrophy Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Hypoinsulinemic hypoglycemia and body hemihypertrophy Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Hypoinsulinemic hypoglycemia and body hemihypertrophy Is a Neonatal hypoglycemia true Inferred relationship Some
Hypoinsulinemic hypoglycemia and body hemihypertrophy Is a Neonatal disorder of endocrine system (disorder) true Inferred relationship Some
Hypoinsulinemic hypoglycemia and body hemihypertrophy Is a Hypoinsulinism (disorder) true Inferred relationship Some
Hypoinsulinemic hypoglycemia and body hemihypertrophy Occurrence Neonatal true Inferred relationship Some 1
Hypoinsulinemic hypoglycemia and body hemihypertrophy Is a Disorder of digestive system specific to fetus OR newborn true Inferred relationship Some
Hypoinsulinemic hypoglycemia and body hemihypertrophy Has interpretation Below reference range true Inferred relationship Some 2
Hypoinsulinemic hypoglycemia and body hemihypertrophy Interprets Blood glucose concentration true Inferred relationship Some 2
Hypoinsulinemic hypoglycemia and body hemihypertrophy Is a 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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