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721235003: Hyperinsulinism due to insulin receptor 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
3324728012 Hyperinsulinism due to insulin receptor deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3324729016 Hyperinsulinism due to insulin receptor deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3324732018 Hyperinsulinism due to INSR (insulin receptor) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3324730014 A very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, an elevated serum insulin-to-C peptide ratio and a variable age of onset. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3324731013 A very rare autosomal dominant form of familial hyperinsulinism characterised clinically in the single reported family by postprandial hypoglycaemia, fasting hyperinsulinaemia, an elevated serum insulin-to-C peptide ratio and a variable age of onset. 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 insulin receptor deficiency (disorder) Due to Insulin receptor defect true Inferred relationship Some 2
Hyperinsulinism due to insulin receptor deficiency (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Hyperinsulinism due to insulin receptor deficiency (disorder) Is a Hyperinsulinism false Inferred relationship Some
Hyperinsulinism due to insulin receptor deficiency (disorder) Is a Familial disease false Inferred relationship Some
Hyperinsulinism due to insulin receptor deficiency (disorder) Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Hyperinsulinism due to insulin receptor deficiency (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Hyperinsulinism due to insulin receptor deficiency (disorder) Finding site Endocrine pancreatic structure false Inferred relationship Some
Hyperinsulinism due to insulin receptor deficiency (disorder) Occurrence Congenital false Inferred relationship Some 1
Hyperinsulinism due to insulin receptor deficiency (disorder) Finding site Endocrine pancreatic structure true Inferred relationship Some 1
Hyperinsulinism due to insulin receptor deficiency (disorder) Is a Familial hyperinsulinemic hypoglycaemia true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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