1187545003: L-doparesponsieve dystonie door deficiëntie van sepiapterinereductase (aandoening)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Diurnal dystonia\Dopa responsive dystonia due to sepiapterin reductase deficiency (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Diurnal dystonia\Dopa responsive dystonia due to sepiapterin reductase deficiency (disorder)

\Finding of movement (finding)\Movement disorder\Extrapyramidal disease\Dystonia\Diurnal dystonia\Dopa responsive dystonia due to sepiapterin reductase deficiency (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Diurnal dystonia\Dopa responsive dystonia due to sepiapterin reductase deficiency (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Central nervous system complication\Dopa responsive dystonia due to sepiapterin reductase deficiency (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Diurnal dystonia\Dopa responsive dystonia due to sepiapterin reductase deficiency (disorder)

\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Central nervous system complication\Dopa responsive dystonia due to sepiapterin reductase deficiency (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Diurnal dystonia\Dopa responsive dystonia due to sepiapterin reductase deficiency (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Diurnal dystonia\Dopa responsive dystonia due to sepiapterin reductase deficiency (disorder)
\Disease\Movement disorder\Extrapyramidal disease\Dystonia\Diurnal dystonia\Dopa responsive dystonia due to sepiapterin reductase deficiency (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dopa responsive dystonia due to sepiapterin reductase deficiency (disorder)	Is a	Diurnal dystonia	true	Inferred relationship	Some
Dopa responsive dystonia due to sepiapterin reductase deficiency (disorder)	Is a	Central nervous system complication	true	Inferred relationship	Some
Dopa responsive dystonia due to sepiapterin reductase deficiency (disorder)	Interprets	Movement	true	Inferred relationship	Some	3
Dopa responsive dystonia due to sepiapterin reductase deficiency (disorder)	Due to	Sepiapterin reductase deficiency	true	Inferred relationship	Some	1
Dopa responsive dystonia due to sepiapterin reductase deficiency (disorder)	Finding site	Extrapyramidal system structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4674119019	Dopa responsive dystonia due to sepiapterin reductase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4674120013	Dopa responsive dystonia due to sepiapterin reductase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13270471000146113	L-doparesponsieve dystonie door deficiëntie van sepiapterinereductase	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13270491000146112	L-doparesponsieve dystonie door deficiëntie van sepiapterinereductase (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13297181000146113	dystonie met respons op L-dopa door deficiëntie van sepiapterinereductase	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13297191000146110	ziekte van Segawa door deficiëntie van sepiapterinereductase	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13301551000146114	dystonie met respons op dihydroxyfenylalanine door SPR-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)