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767139008: Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3664522019 Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3664523012 Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3664522019 Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3664523012 Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5856571000241113 mutation hétérozygote combinée du récepteur des lipoprotéines de basse densité et de la protéine adaptatrice 1 du récepteur des lipoprotéines de basse densité fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5856571000241113 mutation hétérozygote combinée du récepteur des lipoprotéines de basse densité et de la protéine adaptatrice 1 du récepteur des lipoprotéines de basse densité fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations Is a Low density lipoprotein receptor mutation (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations Is a Low density lipoprotein receptor adaptor protein 1 mutation true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Double heterozygous familial hypercholesterolaemia Is a True Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations Inferred relationship Existential restriction modifier (core metadata concept)
Double heterozygous familial hypercholesterolaemia Due to True Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations Inferred relationship Existential restriction modifier (core metadata concept) 2

This concept is not in any reference sets

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