Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes. [ Orphanet:411634 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10:E72.0+ (Orphanet:411634)
  • Orphanet:411634 (OMIM:219900)
  • MESH:C562683 (MONDO:equivalentTo)
  • OMIM:219900 (Orphanet:411634)
  • EFO:0009049 (MONDO:equivalentTo)
  • UMLS:C0268626 (Orphanet:411634)
  • ICD10:N16.3* (Orphanet:411634)
  • SCTID:22830006 (MONDO:equivalentTo)
Subsets

ordo_clinical_subtype

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/juvenile.yaml

definition

Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.

exactMatch

http://identifiers.org/snomedct/22830006

http://identifiers.org/omim/219900

http://linkedlifedata.com/resource/umls/id/C0268626

http://www.orpha.net/ORDO/Orphanet_411634

http://identifiers.org/mesh/C562683

has exact synonym

juvenile cystinosis

intermediate cystinosis

has related synonym

cystinosis, late-onset juvenile or adolescent nephropathic type

cystinosis, intermediate

id

MONDO:0009066