445010006: 'low-density lipoprotein receptor'-mutatie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Low density lipoprotein receptor mutation (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2010. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2870489015 Low density lipoprotein receptor mutation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2872219016 Low density lipoprotein receptor mutation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3664442013 LDLR (low density lipoprotein receptor) mutation en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6809251000146117 'low density lipoprotein receptor'-mutatie nl Synonym (core metadata concept) Inactive Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6809261000146119 'low density lipoprotein receptor'-mutatie (aandoening) nl Fully specified name Inactive Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7383631000146114 mutatie in LDL-receptor nl Synonym (core metadata concept) Inactive Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12122141000146119 'low-density lipoprotein receptor'-mutatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12122151000146116 'low-density lipoprotein receptor'-mutatie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12258641000146113 LDL-receptor-mutatie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Low density lipoprotein receptor mutation (disorder)	Is a	Disorder of lipoprotein storage and metabolism	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations	Is a	False	Low density lipoprotein receptor mutation (disorder)	Inferred relationship	Some
Low density lipoprotein receptor adaptor protein 1 mutation	Is a	True	Low density lipoprotein receptor mutation (disorder)	Inferred relationship	Some

This concept is not in any reference sets