Terminology chevron_right Descriptions chevron_right 3664440017 - Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations (en)

Component

3664440017

The component that hold information about this description.

Concept

767133009 |Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations (disorder)|

Identifies the concept to which this description applies. Set to the identifier of a concept with id 138875005

Language Code

en

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Type

900000000000013009 |Synonym (core metadata concept)|

Identifies whether the description is fully specified name a synonym or other description type. This field is set to a child of 900000000000446008

Term

Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations

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Case Significance

900000000000448009 |Entire term case insensitive (core metadata concept)|

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Acceptability

Acceptable