Tyrosine hydroxylase deficiency

Preferred Label : Tyrosine hydroxylase deficiency;

ICD-11 definition : This is a condition presenting between 2-18 month sof age, characterized by decreased concentrations of serotonin and catecholamines. Symptoms may include: hypersalivation, temperature instability, pinpoint pupils, ptosis, oculogyric crises, hypokinesis, distal chorea, truncal hypotonia, swallowing difficulties, drowsiness and irritability. Diagnois is is established by finding low spinal fluid concentrations of homovanilic acid and 3-methoxy-4-hydroxy-phenylglycol.;

Details

Origin ID

247698609;

UMLS CUI

C2673535;

Currated CISMeF NLP mapping
- Autosomal recessive dopa responsive dystonia (disorder) [SNOMED CT concept]
- Autosomal recessive dopa-responsive dystonia [ORDO Disease]
- Segawa syndrome, autosomal recessive [OMIM Phenotype]
- Segawa syndrome, autosomal recessive [MeSH concept]
- Tyrosine Hydroxylase Deficiency [NCIt concept]
- segawa syndrome, autosomal recessive [MeSH Supplementary 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]
- Segawa syndrome, autosomal recessive [OMIM Phenotype]
- Segawa syndrome, autosomal recessive [MeSH concept]
- Tyrosine Hydroxylase Deficiency [NCIt concept]
- segawa syndrome, autosomal recessive [MeSH Supplementary Concept]

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