715807002: Familial Creutzfeldt-Jakob (disorder)

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

\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)

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\Disorder of brain (disorder)\...

\Infectious disease of brain\Prion disease\Creutzfeldt-Jakob disease\Familial Creutzfeldt-Jakob (disorder)

\Degenerative brain disorder\Prion disease\Creutzfeldt-Jakob disease\Familial Creutzfeldt-Jakob (disorder)

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

12140701000172111 MCJ (maladie de Creutzfeldt-Jakob) familiale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

12140711000172114 maladie de Creutzfeldt-Jakob familiale fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4768501000172110 familiaire ziekte van Creutzfeldt-Jakob nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4768511000172113 fCJD nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

14587251000172113 familiale ziekte van Creutzfeldt-Jakob nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

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	true	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

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
12140701000172111	MCJ (maladie de Creutzfeldt-Jakob) familiale	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
12140711000172114	maladie de Creutzfeldt-Jakob familiale	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4768501000172110	familiaire ziekte van Creutzfeldt-Jakob	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4768511000172113	fCJD	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
14587251000172113	familiale ziekte van Creutzfeldt-Jakob	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)