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445010006: 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


3 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Low density lipoprotein receptor mutation (disorder) est un(e) (attribut) troubles du stockage et du métabolisme des lipoprotéines true Inferred relationship Some

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

This concept is not in any reference sets

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