10680005: Insulin receptor defect (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine receptor\Insulin receptor defect

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

18557013 Insulin receptor defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

584573013 Insulin receptor defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6379561000241110 défaut d'un récepteur de l'insuline fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Insulin receptor defect	Is a	Disorder of endocrine receptor	true	Inferred relationship	Some
Insulin receptor defect	Finding site	Structure of endocrine system (body structure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary benign acanthosis nigricans with insulin resistance	Is a	True	Insulin receptor defect	Inferred relationship	Some
Extreme insulin resistance with acanthosis nigricans, hirsutism AND abnormal insulin receptors	Is a	True	Insulin receptor defect	Inferred relationship	Some
Diabetes mellitus associated with receptor abnormality	Associated with	True	Insulin receptor defect	Inferred relationship	Some	1
This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy.	Is a	True	Insulin receptor defect	Inferred relationship	Some
A rare autosomal dominant form of familial hyperinsulinism characterized clinically by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.	Due to	True	Insulin receptor defect	Inferred relationship	Some	2

Reference Sets