Renal tubular acidosis - deafness

Preferred Label : Renal tubular acidosis - deafness;

ICD-11 definition : Autosomal recessive distal renal tubular acidosis type 1b is an inherited form of distal renal tubular acidosis characterized by hypokalemic hyperchloremic metabolic acidosis and progressive deafness.;

ICD-11 synonym : Autosomal recessive distal renal tubular acidosis with deafness;

Details

Origin ID

127398748;

Automatic exact mappings (from CISMeF team)
- ATPase H+ transporting V1 subunit B1 [HGNC gene]
CISMeF manual mappings
- Renal tubular acidosis with progressive nerve deafness (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Renal-Hepatic-Pancreatic dysplasia [MeSH concept]
- Renal-hepatic-pancreatic dysplasia 1 [OMIM Phenotype]
False automatic mappings
- Renal hepatic pancreatic dysplasia (disorder) [SNOMED CT concept]
- Renal-hepatic-pancreatic dysplasia [ORDO Disease]
- renal-hepatic-pancreatic dysplasia [DO Concept]
See also inter- (CISMeF)
- ATPase H+ transporting V1 subunit B1 [ORDO Gene]
- Renal-Hepatic-Pancreatic dysplasia [MeSH Supplementary Concept]

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