cystinuria - CISMeF

Preferred Label : cystinuria;

MeSH definition : An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. This form of aminoaciduria is characterized by the abnormally high urinary levels of cystine; LYSINE; ARGININE; and ORNITHINE. Mutations involve the amino acid transport protein gene SLC3A1.;

MeSH synonym : cystinurias;

Wikipedia link : https://en.wikipedia.org/wiki/Cystinuria;

Details

Origin ID

D003555;

UMLS CUI

C0010691;

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)
- kidney stones [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Cystine urine [MedDRA Preferred Term]
- Cystine urine present [MedDRA Preferred Term]
- Cystinosis [ORDO Disease]
- Cystinosis [MedDRA Preferred Term]
- Cystinuria [PASCAL descriptor]
- Cystinuria [ICD-11 Subcategory]
- Cystinuria [HPO term]
- Cystinuria [MedDRA Preferred Term]
- Cystinuria [NCIt concept]
- Cystinuria [OMIM Phenotype]
- Cystinuria [ORDO Disease]
- Cystinuria (disorder) [SNOMED CT concept]
- Cystinuria type A [ORDO Disease]
- 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 [MedDRA Preferred Term]
- Hartnup disease [PASCAL descriptor]
- Hartnup disorder [OMIM Phenotype]
- cystinosis [Disease (Nov.)]
- cystinuria [Disease (Nov.)]
- cystinuria [DO Concept]
- cystinuria [CISMeF Querying Strategy]
- cystinuria, nos [SNOMED Notion]
DO Cross reference
- cystinuria [DO Concept]
HPO term
- Cystinuria [HPO term]
Manual BTNT mappings - CISMeF
- Cystinuria type B [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Genetic renal tubular disease [ORDO Disease]
- Rare renal tubular disease [ORDO Disease]
MeSH Descriptor(s) used for indexing
- cystine [MeSH Descriptor]
ORDO relation(s)
- Cystinuria [ORDO Disease]
Record concept(s)
- cystinuria [MeSH concept]
Related MeSH Supplementary Concept(s)
- Hypotonia-Cystinuria syndrome [MeSH Supplementary Concept]
- cystinuria type 1 [MeSH Supplementary Concept]
- cystinuria, type A [MeSH Supplementary Concept]
See also
- urine [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cystinuria [OMIM Phenotype]
- Cystinuria [MedDRA Preferred Term]
- Cystinuria [HPO term]
- Cystinuria [NCIt concept]
- Cystinuria (disorder) [SNOMED CT concept]
- cystinuria [CISMeF Querying Strategy]
- cystinuria [DO Concept]
- cystinuria, nos [SNOMED Notion]

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