aromatic amino acid decarboxylase deficiency

Preferred Label : aromatic amino acid decarboxylase deficiency;

MeSH synonym : dopa decarboxylase deficiency; aromatic L-amino acid decarboxylase deficiency; AADC deficiency Aromatic L-amino acid decarboxylase deficiency; DDC deficiency;

Details

Origin ID

C537437;

UMLS CUI

C1291564;

Automatic exact mappings (from CISMeF team)
- Aromatic L-amino acid decarboxylase deficiency [MedDRA Preferred Term]
CISMeF manual mappings
- Aromatic L-amino acid decarboxylase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Aromatic L-Amino-Acid Decarboxylase Deficiency [NCIt concept]
- Aromatic L-amino acid decarboxylase deficiency [ICD-11 More detail]
- Aromatic L-amino acid decarboxylase deficiency [OMIM Phenotype]
- Aromatic amino acid decarboxylase deficiency (disorder) [SNOMED CT concept]
- Deficiency of aromatic-L-amino-acid decarboxylase (disorder) [SNOMED CT concept]
- aromatic L-amino acid decarboxylase deficiency [DO Concept]
- aromatic l amino acid decarboxylase deficiency [Disease (Nov.)]
MeSH term(s) associated for indexing
- Aromatic-L-Amino-Acid decarboxylases [MeSH Descriptor]
- amino acid metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- Aromatic amino acid decarboxylase deficiency [MeSH concept]
See also (suggested by CISMeF)
- dopa decarboxylase [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aromatic L-Amino-Acid Decarboxylase Deficiency [NCIt concept]
- Aromatic L-amino acid decarboxylase deficiency [OMIM Phenotype]
- Aromatic L-amino acid decarboxylase deficiency [MedDRA Preferred Term]
- Aromatic amino acid decarboxylase deficiency (disorder) [SNOMED CT concept]
- Deficiency of aromatic-L-amino-acid decarboxylase (disorder) [SNOMED CT concept]
- aromatic L-amino acid decarboxylase deficiency [DO Concept]
Validated automatic mappings to BTNT
- aromatic L-amino acid decarboxylase deficiency [DO Concept]

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