hartnup disease

Preferred Label : hartnup disease;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0009808;

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
- Cystine urine present [MedDRA Preferred Term]
- Cystinosis [ORDO Disease]
- Cystinosis [MedDRA Preferred Term]
- Cystinuria [ICD-11 Subcategory]
- Cystinuria [NCIt concept]
- Cystinuria [ORDO Disease]
- Cystinuria [PASCAL descriptor]
- Cystinuria [MedDRA Preferred Term]
- Cystinuria [HPO term]
- Cystinuria [OMIM Phenotype]
- Cystinuria (disorder) [SNOMED CT concept]
- Disorder of amino acid absorption and transport [ORDO Disease]
- 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 [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]
- cystinosis [Disease (Nov.)]
- cystinuria [DO Concept]
- cystinuria [CISMeF Querying Strategy]
- cystinuria [Disease (Nov.)]
- cystinuria, nos [SNOMED Notion]
- neutral 1 amino acid transport defect [SNOMED Notion]
Related record
- hartnup disease [MeSH Descriptor]
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
- Neutral amino acid transport defect [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

Main resources

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