hartnup disease

Preferred Label : hartnup disease;

MeSH definition : An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intestine and the PROXIMAL RENAL TUBULES. The abnormal urinary loss of TRYPTOPHAN, a precursor of NIACIN, leads to a NICOTINAMIDE deficiency, PELLAGRA-like light-sensitive rash, CEREBELLAR ATAXIA, emotional instability, and aminoaciduria. Mutations involve the neurotransmitter transporter gene SLC6A19.;

MeSH synonym : transport disorder, neutral amino acid; transport disorder, neutral amino acids; neutral amino acid transport defect; amino acid transport disorder, neutral; neutral amino acid transport disorder; hartnup disorder;

CISMeF synonym : hartnup's disease;

Details

Origin ID

D006250;

UMLS CUI

C0018609;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
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
- Hartnup Disease [NCIt concept]
- 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]
DO Cross reference
- Hartnup disease [DO Concept]
ORDO relation(s)
- Hartnup disease [ORDO Disease]
Record concept(s)
- hartnup disease [MeSH concept]
See also
- indican [MeSH Descriptor]
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 [MedDRA Preferred Term]
- Hartnup disease [DO Concept]
- 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]
- 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]
- Disorders of amino-acid transport [ICD-10 Sub-category (who)]
- Neutral 1 amino acid transport defect (disorder) [SNOMED CT concept]
- Neutral amino acid transport defect [ICD-11 More detail]
- neutral 1 amino acid transport defect [SNOMED Notion]

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