Congenital Cerebellar Hypoplasia

Preferred Label : Congenital Cerebellar Hypoplasia;

NCIt definition : Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.;

Details

Origin ID

C98890;

UMLS CUI

C0266470;

Currated CISMeF NLP mapping
- Cerebellar hypoplasia [HPO term]
- Congenital cerebellar hypoplasia (disorder) [SNOMED CT concept]
- congenital cerebellar hypoplasia [SNOMED Notion]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebellar hypoplasia [MedDRA Preferred Term]
- Cerebellar hypoplasia [HPO term]
- Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay [OMIM Phenotype]
- Congenital cerebellar hypoplasia (disorder) [SNOMED CT concept]
- HYPOPLASIA CEREBELLAR [WHO-ART Preferred Term]
- Hypoplasia cerebellar [MedDRA LLT]
- Isolated cerebellar agenesis [ORDO Disease]
- cerebellar hypoplasia [MeSH Supplementary Concept]
- cerebellar hypoplasia [MeSH concept]
- congenital cerebellar hypoplasia [SNOMED Notion]
Validated automatic mappings to NTBT
- Cerebellar hypoplasia [MedDRA Preferred Term]
- Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay [OMIM Phenotype]
- HYPOPLASIA CEREBELLAR [WHO-ART Preferred Term]
- Hypoplasia cerebellar [MedDRA LLT]
- cerebellar hypoplasia [MeSH Supplementary Concept]
- cerebellar hypoplasia [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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