Preferred Name

Cystinosis, NOS
Synonyms

Cystine diathesis

Cystine storage disease

Cystine disease

Lignac-Fanconi syndrome

De Toni-Fanconi syndrome

ID

http://purl.bioontology.org/ontology/SNMI/D6-B5300

altLabel

Cystine diathesis

Cystine storage disease

Cystine disease

Lignac-Fanconi syndrome

De Toni-Fanconi syndrome

Associated with

http://purl.bioontology.org/ontology/SNMI/M-55720

http://purl.bioontology.org/ontology/SNMI/G-C002

http://purl.bioontology.org/ontology/SNMI/F-60000

http://purl.bioontology.org/ontology/SNMI/F-64190

http://purl.bioontology.org/ontology/SNMI/DF-00000

cui

C1857395

C4316899

C3495427

notation

D6-B5300

prefLabel

Cystinosis, NOS

SIC

270.7

270.0

SMX

(DF-00000) (F-60000) (G-C002) (M-55720) (F-64190)

tui

T047

subClassOf

http://purl.bioontology.org/ontology/SNMI/D6-B5000

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SCTSPA/61598006 SCTSPA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000892 NDFRT CUI
http://purl.bioontology.org/ontology/SCTSPA/61598006 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10011871 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10052606 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D005198 MESH CUI
http://purl.bioontology.org/ontology/RCD/X30Jq RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10011871 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/61598006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CSP/1849-2203 CRISP CUI
http://purl.bioontology.org/ontology/MSHFRE/D005198 MSHFRE CUI
http://purl.bioontology.org/ontology/RCD/XE113 RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/236466005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/236466005 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10052606 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10011871 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10052606 MEDDRA CUI
http://purl.bioontology.org/ontology/MSHFRE/D003554 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/190681003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/190681003 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/D003554 MESH CUI
http://purl.bioontology.org/ontology/CSP/1849-0607 CRISP CUI
http://purl.bioontology.org/ontology/ICD10CM/E72.04 ICD10CM CUI
http://purl.bioontology.org/ontology/OMIM/219800 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10011777 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10011777 MDRGER CUI
http://purl.bioontology.org/ontology/RCD/C3000 RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10011777 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D005198 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/62332007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/61598006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/62332007 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D005198 MSHFRE CUI
http://purl.bioontology.org/ontology/OMIM/138160 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/227810 OMIM CUI