dystonia, Dopa-Responsive, due to sepiapterin reductase deficiency

Preferred Label : dystonia, Dopa-Responsive, due to sepiapterin reductase deficiency;

MeSH note : mutation in sepiapterin reductase;

MeSH synonym : sepiapterin reductase deficiency; Dopa-Responsive dystonia due to sepiapterin reductase deficiency; spr deficiency;

Details

Origin ID

C562657;

UMLS CUI

C0268468;

Automatic exact mappings (from CISMeF team)
- Dopa-responsive dystonia due to sepiapterin reductase deficiency [ORDO Disease]
- Sepiapterin reductase deficiency (disorder) [SNOMED CT concept]
- sepiapterin reductase deficiency [DO Concept]
- sepiapterin reductase deficiency [SNOMED Notion]
Currated CISMeF NLP mapping
- Dystonia, dopa-responsive, due to sepiapterin reductase deficiency [OMIM Phenotype]
DO Cross reference
- sepiapterin reductase deficiency [DO Concept]
MeSH term(s) associated for indexing
- dystonia [MeSH Descriptor]
- metabolism, inborn errors [MeSH Descriptor]
- psychomotor disorders [MeSH Descriptor]
Record concept(s)
- dystonia, Dopa-Responsive, due to sepiapterin reductase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dopa responsive dystonia due to sepiapterin reductase deficiency (disorder) [SNOMED CT concept]
- Dopa-responsive dystonia due to sepiapterin reductase deficiency [ORDO Disease]
- Dystonia, dopa-responsive, due to sepiapterin reductase deficiency [OMIM Phenotype]
- Sepiapterin reductase deficiency (disorder) [SNOMED CT concept]
- sepiapterin reductase deficiency [SNOMED Notion]
- sepiapterin reductase deficiency [DO Concept]

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