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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, Primitive. 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 Active Case insensitive 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 Case insensitive SNOMED CT core


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 LDL receptor mutation false Inferred relationship Some
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 Some

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 Some
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 Some 2

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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