cerebellar hypoplasia with endosteal sclerosis - CISMeF

" /> cerebellar hypoplasia with endosteal sclerosis - CISMeF

CISMeF

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Cerebellar hypoplasia with endosteal sclerosisMeSH Supplementary Concept

Preferred Label : cerebellar hypoplasia with endosteal sclerosis;

Details

Origin ID

C535353;

UMLS CUI

C3280644;

Currated CISMeF NLP mapping
- Cerebellar hypoplasia with endosteal sclerosis [OMIM Phenotype]
- Endosteal sclerosis - cerebellar hypoplasia [ICD-11 More detail]
- Endosteal sclerosis-cerebellar hypoplasia syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- cerebellar ataxia [MeSH Descriptor]
- osteosclerosis [MeSH Descriptor]
ORDO relation(s)
- Endosteal sclerosis-cerebellar hypoplasia syndrome [ORDO Disease]
Record concept(s)
- Cerebellar hypoplasia with endosteal sclerosis [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebellar hypoplasia with endosteal sclerosis [OMIM Phenotype]
- Endosteal sclerosis-cerebellar hypoplasia syndrome [ORDO Disease]
- Hypomyelinating Leukodystrophy-8 [NCIt concept]
- Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism [OMIM Phenotype]

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02/05/2025

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