Proximal renal tubular acidosis with ocular abnormalities and intellectual deficit

Preferred Label : Proximal renal tubular acidosis with ocular abnormalities and intellectual deficit;

ICD-11 definition : A condition of the kidney, caused by failure of the proximal tubular cells to reabsorb filtered bicarbonate from the urine. This condition is characterized by urinary bicarbonate wasting, acidaemia, with malfunction, malformation, or other anomaly to the eye and decreased intellectual or cognitive functionality.;

Details

Origin ID

1593924898;

UMLS CUI

C1970309;

Currated CISMeF NLP mapping
- Autosomal recessive proximal renal tubular acidosis [ORDO Disease]
- Proximal renal tubular acidosis-ocular anomaly syndrome [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive proximal renal tubular acidosis [ORDO Disease]
- Proximal renal tubular acidosis-ocular anomaly syndrome [OMIM Phenotype]
- renal tubular acidosis, proximal, with ocular abnormalities and mental retardation [MeSH concept]
- renal tubular acidosis, proximal, with ocular abnormalities and mental retardation [MeSH Supplementary Concept]

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