767134003: Low density lipoprotein receptor adaptor protein 1 mutation (disorder)

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)\Low density lipoprotein receptor adaptor protein 1 mutation

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3664443015 Low density lipoprotein receptor adaptor protein 1 mutation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3664444014 Low density lipoprotein receptor adaptor protein 1 mutation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3664445010 LDLRAP1 (Low density lipoprotein receptor adaptor protein 1) mutation en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

14032421000172114 mutation du récepteur de la protéine adaptatrice 1 des LDL (low density lipoprotein) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

14032431000172112 mutation du récepteur de la protéine adaptatrice 1 des lipoprotéines de basse densité fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

14032441000172117 mutation de LDLRAP1 (low density lipoprotein receptor adaptor protein 1) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4641211000172115 LDL-'receptor adaptor protein 1'-mutatie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4641221000172113 LDLRAP1-mutatie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4641231000172111 'low-density lipoprotein receptor adaptor protein 1'-mutatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Low density lipoprotein receptor adaptor protein 1 mutation	Is a	Disorder of lipoprotein storage and metabolism	false	Inferred relationship	Some
Low density lipoprotein receptor adaptor protein 1 mutation	Is a	Low density lipoprotein receptor mutation (disorder)	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	True	Low density lipoprotein receptor adaptor protein 1 mutation	Inferred relationship	Some

Reference Sets