715807002: Familial Creutzfeldt-Jakob (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Infectious disease of brain\Prion disease\Creutzfeldt-Jakob disease\Familial Creutzfeldt-Jakob (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Prion disease\Creutzfeldt-Jakob disease\Familial Creutzfeldt-Jakob (disorder)
\Head finding (finding)\Disorder of head (disorder)\Infective disorder of head\Infectious disease of brain\Prion disease\Creutzfeldt-Jakob disease\Familial Creutzfeldt-Jakob (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Infectious disease of brain\Prion disease\Creutzfeldt-Jakob disease\Familial Creutzfeldt-Jakob (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Prion disease\Creutzfeldt-Jakob disease\Familial Creutzfeldt-Jakob (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Infectious disease of brain\Prion disease\Creutzfeldt-Jakob disease\Familial Creutzfeldt-Jakob (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Prion disease\Creutzfeldt-Jakob disease\Familial Creutzfeldt-Jakob (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Infectious disease of central nervous system\Infectious disease of brain\Prion disease\Creutzfeldt-Jakob disease\Familial Creutzfeldt-Jakob (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Infectious disease of brain\Prion disease\Creutzfeldt-Jakob disease\Familial Creutzfeldt-Jakob (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Prion disease\Creutzfeldt-Jakob disease\Familial Creutzfeldt-Jakob (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Familial Creutzfeldt-Jakob (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Prion disease\Creutzfeldt-Jakob disease\Familial Creutzfeldt-Jakob (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Familial Creutzfeldt-Jakob (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial Creutzfeldt-Jakob (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Familial Creutzfeldt-Jakob (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Prion disease\Creutzfeldt-Jakob disease\Familial Creutzfeldt-Jakob (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Familial Creutzfeldt-Jakob (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Familial Creutzfeldt-Jakob (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Infectious disease of nervous system\Infectious disease of central nervous system\Infectious disease of brain\Prion disease\Creutzfeldt-Jakob disease\Familial Creutzfeldt-Jakob (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Infectious disease of central nervous system\Infectious disease of brain\Prion disease\Creutzfeldt-Jakob disease\Familial Creutzfeldt-Jakob (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Infectious disease of brain\Prion disease\Creutzfeldt-Jakob disease\Familial Creutzfeldt-Jakob (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Prion disease\Creutzfeldt-Jakob disease\Familial Creutzfeldt-Jakob (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Familial Creutzfeldt-Jakob (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Prion disease\Creutzfeldt-Jakob disease\Familial Creutzfeldt-Jakob (disorder)
\Disease\Disorder of head (disorder)\Infective disorder of head\Infectious disease of brain\Prion disease\Creutzfeldt-Jakob disease\Familial Creutzfeldt-Jakob (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Infectious disease of brain\Prion disease\Creutzfeldt-Jakob disease\Familial Creutzfeldt-Jakob (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Prion disease\Creutzfeldt-Jakob disease\Familial Creutzfeldt-Jakob (disorder)
\Disease\Infectious disease\Infective disorder of head\Infectious disease of brain\Prion disease\Creutzfeldt-Jakob disease\Familial Creutzfeldt-Jakob (disorder)
\Disease\Infectious disease\Infectious disease of nervous system\Infectious disease of central nervous system\Infectious disease of brain\Prion disease\Creutzfeldt-Jakob disease\Familial Creutzfeldt-Jakob (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3303774010 Familial Creutzfeldt-Jakob (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3303775011 Familial Creutzfeldt-Jakob en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3303776012 fCJD (Familial Creutzfeldt-Jakob disease) en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3307459013 Inherited Creutzfeldt-Jakob disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3307460015 Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3307461016 Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterised by typical CJD features (rapidly progressive dementia, personality/behavioural changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial Creutzfeldt-Jakob (disorder)	Is a	Creutzfeldt-Jakob disease	true	Inferred relationship	Some
Familial Creutzfeldt-Jakob (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Familial Creutzfeldt-Jakob (disorder)	Associated morphology	Spongy degeneration	true	Inferred relationship	Some	1
Familial Creutzfeldt-Jakob (disorder)	Causative agent	Creutzfeldt-Jakob agent	true	Inferred relationship	Some	1
Familial Creutzfeldt-Jakob (disorder)	Finding site	Brain tissue structure	false	Inferred relationship	Some	1
Familial Creutzfeldt-Jakob (disorder)	Pathological process (attribute)	Infectious process (qualifier value)	true	Inferred relationship	Some	1
Familial Creutzfeldt-Jakob (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Familial Creutzfeldt-Jakob (disorder)	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Familial Creutzfeldt-Jakob (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dementia due to familial Creutzfeldt-Jakob disease (disorder)	Due to	True	Familial Creutzfeldt-Jakob (disorder)	Inferred relationship	Some	3

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3303774010	Familial Creutzfeldt-Jakob (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303775011	Familial Creutzfeldt-Jakob	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303776012	fCJD (Familial Creutzfeldt-Jakob disease)	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3307459013	Inherited Creutzfeldt-Jakob disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3307460015	Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3307461016	Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterised by typical CJD features (rapidly progressive dementia, personality/behavioural changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core