Endosteal sclerosis - cerebellar hypoplasia

Preferred Label : Endosteal sclerosis - cerebellar hypoplasia;

ICD-11 definition : Endosteal sclerosis - cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances.;

Details

Origin ID

1999155016;

Currated CISMeF NLP mapping
- Cerebellar hypoplasia with endosteal sclerosis [MeSH concept]
- Cerebellar hypoplasia with endosteal sclerosis [OMIM Phenotype]
- Endosteal sclerosis-cerebellar hypoplasia syndrome [ORDO Disease]
- cerebellar hypoplasia with endosteal sclerosis [MeSH Supplementary Concept]

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