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782743001: Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3755561018 Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
3755562013 Huntington disease-like syndrome due to C9ORF72 expansions en Synonym Active Entire term case sensitive SNOMED CT core module
3755563015 Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions en Synonym Active Entire term case sensitive SNOMED CT core module
3755564014 C9ORF72-related Huntington disease phenocopy en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions Is a Huntington disease-like syndrome true Inferred relationship Existential restriction modifier
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions Is a Cerebral degeneration true Inferred relationship Existential restriction modifier
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions Finding site Basal ganglion structure true Inferred relationship Existential restriction modifier 1
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions Is a Hereditary disorder of nervous system false Inferred relationship Existential restriction modifier
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions Associated morphology Degeneration false Inferred relationship Existential restriction modifier 1
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions Is a Hereditary degenerative disease of central nervous system true Inferred relationship Existential restriction modifier
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions Associated morphology Degenerative abnormality true Inferred relationship Existential restriction modifier 1
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions Interprets Movement true Inferred relationship Existential restriction modifier 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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