Aromatic L-Amino-Acid Decarboxylase Deficiency

Preferred Label : Aromatic L-Amino-Acid Decarboxylase Deficiency;

NCIt synonyms : AADC Deficiency;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the DDC gene, encoding aromatic-L-amino-acid decarboxylase. It is characterized by combined serotonin and catecholamine deficiency, resulting in severe neurologic dysfunction usually beginning in infancy or childhood.;

Details

Origin ID

C142085;

UMLS CUI

C1291564;

Currated CISMeF NLP mapping
- Aromatic L-amino acid decarboxylase deficiency [ORDO Disease]
- Aromatic L-amino acid decarboxylase deficiency [OMIM Phenotype]
- Aromatic L-amino acid decarboxylase deficiency [ICD-11 More detail]
- 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.)]
DO Cross reference
- aromatic L-amino acid decarboxylase deficiency [DO Concept]
See also inter- (CISMeF)
- Aromatic amino acid decarboxylase deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aromatic L-amino acid decarboxylase deficiency [OMIM Phenotype]
- Aromatic L-amino acid decarboxylase deficiency [MedDRA Preferred Term]
- 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]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- DDC Gene [NCIt concept]

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