Hartnup Disease

Preferred Label : Hartnup Disease;

NCIt definition : An autosomal recessive inherited metabolic disorder caused by mutations in the SLC6A19 gene. It is characterized by defective absorption of neutral amino acids. Signs and symptoms include skin eruptions reminiscent of pellagra, aminoaciduria, and cerebellar ataxia.;

Details

Origin ID

C84748;

UMLS CUI

C0018609;

Automatic exact mappings (from CISMeF team)
- solute carrier family 6 member 19 [ORDO Gene]
- solute carrier family 6 member 19 [HGNC gene]
Currated CISMeF NLP mapping
- Disorders of amino-acid transport [ICD-10 Sub-category (who)]
- Disorders of amino-acid transport [ICD-10 Sub-category]
- Hartnup disease [DO Concept]
- Hartnup disease [PASCAL descriptor]
- Hartnup disease [MedDRA Preferred Term]
- Hartnup disease [ORDO Disease]
- Hartnup disorder [OMIM Phenotype]
- Hartnup syndrome [ICD-11 More detail]
- 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]
DO Cross reference
- Hartnup disease [DO 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 [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 concept]
- hartnup disease [MeSH Descriptor]
- neutral 1 amino acid transport defect [SNOMED Notion]
Validated automatic mappings to NTBT
- Neutral amino acid transport defect [ICD-11 More detail]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SLC6A19 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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