Neutral amino acid transport defect

Preferred Label : Neutral amino acid transport defect;

ICD-11 inclusion : neutral 1 amino acid transport defect;

Origin ID

1071241996;

UMLS CUI

C0018609;

Currated CISMeF NLP mapping
- Neutral 1 amino acid transport defect (disorder) [SNOMED CT concept]
- neutral 1 amino acid transport defect [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of tryptophan 2,3-dioxygenase (disorder) [SNOMED CT concept]
- Disorder of neutral amino acid transport [ORDO Disease]
- Hartnup Disease [NCIt concept]
- Hartnup disease [DO Concept]
- Hartnup disease [MedDRA Preferred Term]
- Hartnup disease [ORDO Disease]
- Hartnup disorder [OMIM Phenotype]
- Neutral 1 amino acid transport defect (disorder) [SNOMED CT concept]
- hartnup disease [MeSH Descriptor]
- hartnup disease [MeSH concept]
- neutral 1 amino acid transport defect [SNOMED Notion]
Validated automatic mappings to BTNT
- Hartnup Disease [NCIt concept]
- Hartnup disease [DO Concept]
- Hartnup disease [MedDRA Preferred Term]
- Hartnup disease [PASCAL descriptor]
- Hartnup disease [ORDO Disease]
- Hartnup disorder [OMIM Phenotype]
- hartnup disease [MeSH Descriptor]
- hartnup disease [MeSH concept]
Validated automatic mappings to NTBT
- Disorders of amino-acid transport [ICD-10 Sub-category (who)]