Terminology Service for NFDI4Health
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cystinuria

Go to external page http://purl.obolibrary.org/obo/MONDO_0009067

Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones. [ ]

Term info

Label

cystinuria

Synonyms
  • cystinuria
  • cystinuria (disease)
  • cystinuria-lysinuria syndrome
database cross reference
Subsets

gard_rare, ordo_disease

IAO 0000589

cystinuria (disease)

closeMatch

http://identifiers.org/meddra/10011778

exactMatch

http://linkedlifedata.com/resource/umls/id/C0010691, http://identifiers.org/snomedct/85020001, http://purl.obolibrary.org/obo/Orphanet_214, http://identifiers.org/mesh/D003555, http://purl.obolibrary.org/obo/NCIT_C84664, http://purl.obolibrary.org/obo/DOID_9266, https://omim.org/entry/220100

has related synonym

cystinuria, type I, formerly, cystinuria, type I, cystinuria, type II, formerly, cystinuria, type non-I, CSNU, cystinuria, type A/B, cystinuria, type a, cystinuria-lysinuria, cystinuria, type B, cystinuria, type III, formerly, cystinuria, type non-I, formerly, cystinuria, type III, cystinuria, type II

id

MONDO:0009067

narrowMatch

https://icd.codes/icd10cm/E72.0

see also

https://rarediseases.info.nih.gov/diseases/6237/cystinuria