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1187545003: 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:

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
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
6107701000241114 DRD (dopa responsive dystonia) par déficit en SPR (sépiaptérine réductase) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6107711000241111 dystonie dopa sensible due à un déficit en sépiaptérine réductase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6107701000241114 DRD (dopa responsive dystonia) par déficit en SPR (sépiaptérine réductase) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6107711000241111 dystonie dopa sensible due à un déficit en sépiaptérine réductase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

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

This concept is not in any reference sets

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