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

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
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
6377051000241113 mutation du récepteur de la protéine adaptatrice 1 des LDL (low density lipoprotein) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6377061000241111 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) SNOMED CT Switzerland NRC maintained Module
6377071000241115 mutation de LDLRAP1 (low density lipoprotein receptor adaptor protein 1) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6377051000241113 mutation du récepteur de la protéine adaptatrice 1 des LDL (low density lipoprotein) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6377061000241111 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) SNOMED CT Switzerland NRC maintained Module
6377071000241115 mutation de LDLRAP1 (low density lipoprotein receptor adaptor protein 1) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2 descendants. Search Descendants:

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 Existential restriction modifier (core metadata concept)
Low density lipoprotein receptor adaptor protein 1 mutation Is a Low density lipoprotein receptor mutation (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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