80544005: syndroom van aspartoacylasedeficiëntie (aandoening)

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

\Neurological lesion\Leucodystrophy\Spongy degeneration of central nervous system

\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\...

\Leucodystrophy\Spongy degeneration of central nervous system

\Hereditary degenerative disease of central nervous system\Spongy degeneration of central nervous system

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Spongy degeneration of central nervous system
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Spongy degeneration of central nervous system
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Spongy degeneration of central nervous system
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Spongy degeneration of central nervous system
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Spongy degeneration of central nervous system
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy\Spongy degeneration of central nervous system
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Spongy degeneration of central nervous system
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\Spongy degeneration of central nervous system
\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\Spongy degeneration of central nervous system
\Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Spongy degeneration of central nervous system

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spongy degeneration of central nervous system	Is a	Disorder of amino acid and organic acid metabolism	true	Inferred relationship	Some
Spongy degeneration of central nervous system	Is a	Degenerative disease of the central nervous system	false	Inferred relationship	Some
Spongy degeneration of central nervous system	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Spongy degeneration of central nervous system	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	1
Spongy degeneration of central nervous system	Associated morphology	Spongy degeneration	false	Inferred relationship	Some	1
Spongy degeneration of central nervous system	Occurrence	Congenital	false	Inferred relationship	Some
Spongy degeneration of central nervous system	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	1
Spongy degeneration of central nervous system	Associated morphology	Spongy degeneration	true	Inferred relationship	Some	1
Spongy degeneration of central nervous system	Is a	Leucodystrophy	true	Inferred relationship	Some
Spongy degeneration of central nervous system	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	2
Spongy degeneration of central nervous system	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
Spongy degeneration of central nervous system	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Some	3
Spongy degeneration of central nervous system	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	3
Spongy degeneration of central nervous system	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Spongy degeneration of central nervous system	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Scrapie	Is a	False	Spongy degeneration of central nervous system	Inferred relationship	Some
Bovine spongiform encephalopathy	Is a	False	Spongy degeneration of central nervous system	Inferred relationship	Some
Creutzfeldt-Jakob disease	Is a	False	Spongy degeneration of central nervous system	Inferred relationship	Some
Kuru	Is a	False	Spongy degeneration of central nervous system	Inferred relationship	Some
Prion disease	Is a	False	Spongy degeneration of central nervous system	Inferred relationship	Some
Family history of Canavan disease	Associated finding	True	Spongy degeneration of central nervous system	Inferred relationship	Some	1

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
133637014	Spongy degeneration of central nervous system	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
133638016	Cavanan-van Bogaert-Bertrand disease	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
133639012	Spongy degeneration of white matter	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
133640014	Canavan's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
504449017	Canavan-van-Bogaert-Bertrand disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
504450017	Aspartoacylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
504451018	Spongy degeneration of white matter in infancy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
504452013	Spongiform leucodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
821716016	Spongy degeneration of central nervous system (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2647269010	Canavan-van Bogaert-Bertrand disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1532211000146115	ziekte van Canavan (aandoening)	nl	Fully specified name	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1532221000146113	ziekte van Canavan	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6168041000146114	aspartoacylasedeficiëntie	nl	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6183731000146112	aspartoacylasedeficiëntie (aandoening)	nl	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11313701000146114	syndroom van aspartoacylasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11313711000146111	Canavan-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11313721000146118	syndroom van ASPA-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11313731000146116	ziekte van Canavan-Van Bogaert-Bertrand	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11313741000146112	syndroom van deficiëntie van aspartoacylase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11313751000146110	syndroom van aspartoacylasedeficiëntie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11313761000146113	syndroom van deficiëntie van aminoacylase II	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11313771000146119	Canavan-Van Bogaert-Bertrand-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11313781000146117	spongiforme degeneratie van centraal zenuwstelsel	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10220221000146113	Erfelijke vetstapelingsziekte met als kenmerken verstandelijke en motorische achterstand.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)