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renal tubular acidosis

^ http://purl.obolibrary.org/obo/MONDO_0001909

A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets. [ MESH:D000141 ]

Term info

database cross reference
  • ICD9:588.89 (MONDO:relatedTo)
  • UMLS:C0001126 (MONDO:equivalentTo)
  • MESH:D000141 (MONDO:equivalentTo)
  • DOID:14219 (MONDO:equivalentTo)
  • GARD:0007552 (MONDO:equivalentTo)
  • SCTID:1776003 (MONDO:equivalentTo)
Subsets

gard_rare

definition

A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets.

exactMatch

http://identifiers.org/snomedct/1776003, http://linkedlifedata.com/resource/umls/id/C0001126, http://identifiers.org/mesh/D000141, http://purl.obolibrary.org/obo/DOID_14219

id

MONDO:0001909

seeAlso

https://rarediseases.info.nih.gov/diseases/7552/renal-tubular-acidosis