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AttributesValues
rdf:type
rdfs:label
  • Cystinosis
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Cystinosis
UMLS_CUI
  • C0010690
ALT_DEFINITION
  • Lysosomal storage disorders of unknown molecular defect, characterized by widespread deposition of cystine crystals in reticuloendothelial cells. (From Dorland, 27th ed)MSH2003_2003_05_12
Legacy_Concept_Name
  • Cystinosis
FULL_SYN
  • CystinosisPTNCI
DEFINITION
  • An autosomal recessive hereditary disorder characterized by defective transportation of cystine across the lysosomal membranes and systemic deposition of cystine crystals in the body. It is associated with slight increase of the plasma cystine, cystinuria, aminoaciduria, glycosuria, polyuria, hypophosphatemia, rickets, and renal tubular dysfunction. --2004NCI
code
  • C2976
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