Tyrosine Hydroxylase Deficiency

Preferred Label : Tyrosine Hydroxylase Deficiency;

NCIt synonyms : Segawa Syndrome, Autosomal Recessive; Parkinsonism, Infantile, Autosomal Recessive; Dystonia, Dopa-Responsive, Autosomal Recessive;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the TH gene, encoding tyrosine 3-monooxygenase. It is characterized by onset in infancy of dopa-responsive dystonia.;

Details

Origin ID

C157158;

UMLS CUI

C5700309;

Currated CISMeF NLP mapping
- Autosomal recessive dopa responsive dystonia (disorder) [SNOMED CT concept]
- Autosomal recessive dopa-responsive dystonia [ICD-11 More detail]
- Autosomal recessive dopa-responsive dystonia [ORDO Disease]
- Segawa syndrome, autosomal recessive [MeSH concept]
- Segawa syndrome, autosomal recessive [OMIM Phenotype]
- Tyrosine hydroxylase deficiency [ICD-11 More detail]
- segawa syndrome, autosomal recessive [MeSH Supplementary Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive dopa responsive dystonia (disorder) [SNOMED CT concept]
- Autosomal recessive dopa-responsive dystonia [ICD-11 More detail]
- Autosomal recessive dopa-responsive dystonia [ORDO Disease]
- Segawa syndrome, autosomal recessive [OMIM Phenotype]
- Segawa syndrome, autosomal recessive [MeSH concept]
- Tyrosine hydroxylase deficiency [ICD-11 More detail]
- segawa syndrome, autosomal recessive [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- TH Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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