segawa syndrome, autosomal recessive

Preferred Label : segawa syndrome, autosomal recessive;

CISMeF synonym : dystonia, Dopa-Responsive, with or without hyperphenylalaninemia, autosomal recessive;

MeSH synonym : parkinsonism, infantile, autosomal recessive; dystonia, DOPA responsive, autosomal recessive; DOPA responsive dystonia, autosomal recessive; tyrosine hydroxylase deficiency; Dopa-Responsive dystonia, autosomal recessive; dystonia, Dopa-Responsive, autosomal recessive; Th-Deficient drd; autosomal recessive infantile parkinsonism;

Details

Origin ID

C537537;

UMLS CUI

C5700309;

Automatic exact mappings (from CISMeF team)
- Hyperphenylalaninemia, bh4-deficient, b [OMIM Phenotype]
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 [OMIM Phenotype]
- Tyrosine Hydroxylase Deficiency [NCIt concept]
- Tyrosine hydroxylase deficiency [ICD-11 More detail]
Has phenotype(s) (HPO)
- Speech delay [HPO term]
- Usually autosomal dominant [HPO term]
MeSH term(s) associated for indexing
- dystonic disorders [MeSH Descriptor]
Record concept(s)
- Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive [MeSH concept]
- Segawa syndrome, autosomal recessive [MeSH 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 [ORDO Disease]
- Autosomal recessive dopa-responsive dystonia [ICD-11 More detail]
- Segawa syndrome, autosomal recessive [OMIM Phenotype]
- Tyrosine Hydroxylase Deficiency [NCIt concept]
- Tyrosine hydroxylase deficiency [ICD-11 More detail]

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