neutral 1 amino acid transport defect

Preferred Label : neutral 1 amino acid transport defect;

Details

Origin ID

D6-B8400;

UMLS CUI

C0018609;

Currated CISMeF NLP mapping
- Disorders of amino-acid transport [ICD-10 Sub-category]
- Disorders of amino-acid transport [ICD-10 Sub-category (who)]
- Hartnup Disease [NCIt concept]
- Hartnup disease [PASCAL descriptor]
- Hartnup disease [DO Concept]
- Hartnup disease [MedDRA Preferred Term]
- Hartnup disorder [OMIM Phenotype]
- Hartnup syndrome [ICD-11 More detail]
- Neutral 1 amino acid transport defect (disorder) [SNOMED CT concept]
- Neutral amino acid transport defect [ICD-11 More detail]
- hartnup disease [MeSH concept]
False automatic mappings
- Deficiency of tryptophan 2,3-dioxygenase (disorder) [SNOMED CT concept]
ICD-10 exact mapping(s)
- Disorders of amino-acid transport [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Genetic photodermatosis [ORDO Disease]
- Nephropathy secondary to a storage or other metabolic disease [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Rare photodermatosis [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
- pediatrics [CISMeF Metaterm]
SNOMED CT concept
- Neutral 1 amino acid transport defect (disorder) [SNOMED CT concept]
See also inter- (CISMeF)
- Cystinuria [ICD-11 Subcategory]
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 [ORDO Disease]
- Hartnup disease [DO Concept]
- Hartnup disease [MedDRA Preferred Term]
- Hartnup disorder [OMIM Phenotype]
- Hartnup syndrome [ICD-11 More detail]
- Neutral 1 amino acid transport defect (disorder) [SNOMED CT concept]
- Neutral amino acid transport defect [ICD-11 More detail]
- hartnup disease [MeSH Descriptor]
- hartnup disease [MeSH concept]
Validated automatic mappings to BTNT
- Hartnup disease [ORDO Disease]
- hartnup disease [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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