Osteopetrosis with renal tubular acidosis

Preferred Label : Osteopetrosis with renal tubular acidosis;

ICD-11 definition : Osteopetrosis with renal tubular acidosis is a form of osteopetrosis, and is marked by the classical triad: diffuse skeletal sclerosis, renal tubular acidosis and brain calcifications.;

Details

Origin ID

1187356117;

UMLS CUI

C0345407;

Currated CISMeF NLP mapping
- Osteopetrosis with Renal Tubular Acidosis [NCIt concept]
- Osteopetrosis with renal tubular acidosis [MeSH concept]
- Osteopetrosis with renal tubular acidosis [ORDO Disease]
- Osteopetrosis with renal tubular acidosis (disorder) [SNOMED CT concept]
- Osteopetrosis, autosomal recessive 3 [OMIM Phenotype]
- autosomal recessive osteopetrosis 3 [DO Concept]
- osteopetrosis with renal tubular acidosis [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteopetrosis with Renal Tubular Acidosis [NCIt concept]
- Osteopetrosis with renal tubular acidosis [MeSH concept]
- Osteopetrosis with renal tubular acidosis (disorder) [SNOMED CT concept]
- Osteopetrosis, autosomal recessive 3 [OMIM Phenotype]
- autosomal recessive osteopetrosis 3 [DO Concept]
- osteopetrosis with renal tubular acidosis [MeSH Supplementary Concept]

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