Aromatic L-amino acid decarboxylase deficiency

Preferred Label : Aromatic L-amino acid decarboxylase deficiency;

ICD-11 definition : This is a condition presenting between 2-18 month sof age with hypersalivation, temperature instability, pinpoint pupils, ptosis, oculogyric crises, hypokinesis, distal chorea, truncal hypotonia, swallowing difficulties, drowsiness and irritability. Symptoms reflec the combined lack of serotonin and catecholamines and diagnosis is established by finding marked elevation of L-dopa, 5-hydroxytryptamine and 3-O-methyldopa in the spinal fluid, plasma and urine.;

ICD-11 synonym : DOPA decarboxylase deficiency;

Details

Origin ID

1134258245;

Automatic exact mappings (from CISMeF team)
- Aromatic L-amino acid decarboxylase deficiency [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Aromatic L-Amino-Acid Decarboxylase Deficiency [NCIt concept]
- Aromatic L-amino acid decarboxylase deficiency [ORDO Disease]
- Aromatic L-amino acid decarboxylase deficiency [OMIM Phenotype]
- Deficiency of aromatic-L-amino-acid decarboxylase (disorder) [SNOMED CT concept]
- aromatic L-amino acid decarboxylase deficiency [DO Concept]
- aromatic amino acid decarboxylase deficiency [MeSH Supplementary Concept]
- aromatic l amino acid decarboxylase deficiency [Disease (Nov.)]
See also inter- (CISMeF)
- Aromatic amino acid decarboxylase deficiency (disorder) [SNOMED CT concept]

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