Central nervous system calcification - deafness - tubular acidosis - anaemia

Preferred Label : Central nervous system calcification - deafness - tubular acidosis - anaemia;

ICD-11 definition : Central nervous system calcification - deafness - tubular acidosis - anemia syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia.;

Details

Origin ID

2051416590;

CISMeF manual mappings
- Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome [ORDO Disease]
- Leukoencephalopathy, progressive, infantile-onset, with or without deafness [OMIM Phenotype]

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