ICD-11 code : 5C60.1;
Preferred Label : Cystinosis;
ICD-11 definition : Cystinosis is a metabolic disease characterised by an accumulation of cystine inside
the lysosomes of different tissues due to a defect in cystine transport out of lysosomes.
There are three clinical forms : infantile, juvenile and ocular. The infantile form
is severe, multisystem disease, with impaired proximal tubular reabsorptive capacity,
with severe fluid-electrolyte balance alterations, cystine deposits in various organs
and progression towards renal failure after 6 years of age. Juvenile cystinosis appear
around 8 years of age and has an intermediate clinical picture with end-stage renal
disease occurring after the age of 15.The ocular, adult form presents with photophobia.;
ICD-11 synonym : Cystine diathesis; Cystine storage disease; Protein defect of cystine transport;
Origin ID : 733715856;
UMLS CUI : C4316899;
Currated CISMeF NLP mapping
- ICD-10 Mapping
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
Cystinosis is a metabolic disease characterised by an accumulation of cystine inside
the lysosomes of different tissues due to a defect in cystine transport out of lysosomes.
There are three clinical forms : infantile, juvenile and ocular. The infantile form
is severe, multisystem disease, with impaired proximal tubular reabsorptive capacity,
with severe fluid-electrolyte balance alterations, cystine deposits in various organs
and progression towards renal failure after 6 years of age. Juvenile cystinosis appear
around 8 years of age and has an intermediate clinical picture with end-stage renal
disease occurring after the age of 15.The ocular, adult form presents with photophobia.
