Hartnup syndrome

Preferred Label : Hartnup syndrome;

ICD-11 definition : Hartnup syndrome is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine). It can be asymptomatic or present with skin photosensitivity, neurological or psychiatric symptoms.;

ICD-11 synonym : Hartnup disease; Hartnup disorder; Hartnup type aminoaciduria;

Details

Origin ID

871897464;

UMLS CUI

C0018609;

Automatic exact mappings (from CISMeF team)
- solute carrier family 6 member 19 [HGNC gene]
Currated CISMeF NLP mapping
- Hartnup Disease [NCIt concept]
- Hartnup disease [MedDRA Preferred Term]
- Hartnup disease [DO Concept]
- Hartnup disease [PASCAL descriptor]
- Hartnup disease [ORDO Disease]
- Hartnup disorder [OMIM Phenotype]
- Neutral 1 amino acid transport defect (disorder) [SNOMED CT concept]
- hartnup disease [MeSH concept]
- hartnup disease [MeSH Descriptor]
- neutral 1 amino acid transport defect [SNOMED Notion]
See also inter- (CISMeF)
- solute carrier family 6 member 19 [ORDO Gene]
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 NTBT
- Disorder of neutral amino acid transport [ORDO Disease]
- Disorders of amino-acid transport [ICD-10 Sub-category (who)]

Keyword's position in hierarchy(ies) :

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