10680005: Insulin receptor defect (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Disorder of body system\Disorder of endocrine system (disorder)\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

18557013 Insulin receptor defect en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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

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	Existential restriction modifier (core metadata concept)
Insulin receptor defect	Finding site	Structure of endocrine system (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary benign acanthosis nigricans with insulin resistance	Is a	True	Insulin receptor defect	Inferred relationship	Existential restriction modifier (core metadata concept)
Extreme insulin resistance with acanthosis nigricans, hirsutism AND abnormal insulin receptors	Is a	True	Insulin receptor defect	Inferred relationship	Existential restriction modifier (core metadata concept)
Diabetes mellitus associated with receptor abnormality (disorder)	Associated with	True	Insulin receptor defect	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome	Is a	True	Insulin receptor defect	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperinsulinism due to insulin receptor deficiency	Due to	True	Insulin receptor defect	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Reference Sets