cystinosis - CISMeF

Preferred Label : cystinosis;

MeSH definition : A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.;

MeSH synonym : cystinoses; Cystine Disease; Cystine Diseases; Lysosomal Cystine Transport Protein, Defect Of; Cystinosin, Defect of; Defect of Cystinosin; Cystine Diathesis; Cystine Diatheses; Diatheses, Cystine; Diathesis, Cystine; Cystine Storage Disease; Cystine Storage Diseases; Storage Disease, Cystine; Storage Diseases, Cystine;

CISMeF synonym : disease, cystine storage; diseases, cystine storage; Defect of Cystinosins; cystine diathesis; cystine disease; cystine storage disease; cystinosin, defect of; lysosomal cystine transport protein, defect of; nephropathic cystinosis;

MeSH hyponym : Cystinosis, Nephropathic; Cystinoses, Nephropathic; Nephropathic Cystinoses; Cystine Storage Diseases; Storage Disease, Cystine; Storage Diseases, Cystine; Defect of Cystinosin; Cystine Diseases; Cystine Diatheses; Diatheses, Cystine; Diathesis, Cystine;

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

Details

Origin ID

D003554;

UMLS CUI

C4316899;

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)
- Infantile nephropathic cystinosis (disorder) [SNOMED CT concept]
- Nephropathic cystinosis [ICD-11 More detail]
- cystinosin, lysosomal cystine transporter [ORDO Gene]
- infantile nephropathic cystinosis [SNOMED Notion]
Currated CISMeF NLP mapping
- Cystine urine present [MedDRA Preferred Term]
- Cystinosis [PASCAL descriptor]
- Cystinosis [ICD-11 Subcategory]
- Cystinosis [MedDRA Preferred Term]
- Cystinosis [NCIt concept]
- Cystinosis [ORDO Disease]
- Cystinosis (disorder) [SNOMED CT concept]
- Cystinosis, nephropathic [OMIM Phenotype]
- 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)]
- Fanconi syndrome [Disease (Nov.)]
- Hartnup disease [MedDRA Preferred Term]
- Hartnup disease [PASCAL descriptor]
- Hartnup disorder [OMIM Phenotype]
- Nephropathic Cystinosis [NCIt concept]
- Nephropathic cystinosis [MedDRA LLT]
- cystinosis [Disease (Nov.)]
- cystinosis [DO Concept]
- cystinosis, nos [SNOMED Notion]
- cystinuria [DO Concept]
- cystinuria [CISMeF Querying Strategy]
- cystinuria [Disease (Nov.)]
- cystinuria, nos [SNOMED Notion]
DO Cross reference
- cystinosis [DO Concept]
Manual BTNT mappings - CISMeF
- ocular cystinosis [Indication]
Manual NTBT mappings (CISMeF)
- Disorder of lysosomal amino acid transport [ORDO Disease]
- Metabolic disease with corneal opacity [ORDO Disease]
- Metabolic disease with pigmentary retinitis [ORDO Disease]
- Nephropathy secondary to a storage or other metabolic disease [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
ORDO relation(s)
- Cystinosis [ORDO Disease]
Record concept(s)
- Nephropathic Cystinosis [MeSH concept]
- cystinosis [MeSH concept]
Related MeSH Supplementary Concept(s)
- Abderhalden-Kaufmann-Lignac syndrome [MeSH Supplementary Concept]
- cystinosis, Late-Onset juvenile or adolescent nephropathic type [MeSH Supplementary Concept]
- cystinosis, infantile nephropathic [MeSH Supplementary Concept]
- cystinosis, ocular nonnephropathic [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Fanconi syndrome [ICD-11 Sub-sub category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cystinosis [MedDRA Preferred Term]
- Cystinosis [ICD-11 Subcategory]
- Cystinosis [NCIt concept]
- Cystinosis (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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