Cystinosis
ICD-10 Code
E72.04
Cystinosis
Definition
Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.
Also known as cystine storage disease, cystinosis, Protein defect of cystin transport — per MONDO
Also identified as
- DOID 1064 per MONDO
- ICD10CM E72.04 per MONDO
- MESH D003554 per MONDO
- NCIT C2976 per MONDO
- Orphanet 213 per MONDO
- SCTID 190681003 per MONDO
- UMLS C4316899 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Adult mammalian kidney | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Adult mammalian kidney | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Genitourinary system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Genitourinary system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Renal system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Renal system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |