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721234004: Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3324723015 Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3324724014 Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3324725010 Hyperinsulinism due to HNF1A deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3324726011 A form of diazoxide-sensitive diffuse hyperinsulinism, characterized by transient or persistent hyperinsulinemic hypoglycemia in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 later in life. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3324727019 A form of diazoxide-sensitive diffuse hyperinsulinism, characterised by transient or persistent hyperinsulinaemic hypoglycaemia in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 later in life. 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
Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder) est un(e) (attribut) Congenital disease true Inferred relationship Some
Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder) est un(e) (attribut) Hyperinsulinism true Inferred relationship Some
Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder) est un(e) (attribut) Digestive system hereditary disorder true Inferred relationship Some
Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder) est un(e) (attribut) Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder) localisation d'une constatation (attribut) structure du pancréas endocrine false Inferred relationship Some
Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder) localisation d'une constatation (attribut) structure du pancréas endocrine true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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