cerebellar hypoplasia

Preferred Label : cerebellar hypoplasia;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0562868;

UMLS CUI

C0266470;

Automatic exact mappings (from CISMeF team)
- cerebellar hypoplasia [DO Concept]
Currated CISMeF NLP mapping
- Cerebellar hypoplasia [HPO term]
- Cerebellar hypoplasia [MedDRA Preferred 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]
- congenital cerebellar hypoplasia [SNOMED Notion]
Related record
- cerebellar hypoplasia [MeSH Supplementary 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 [NCIt concept]
- Congenital cerebellar hypoplasia (disorder) [SNOMED CT concept]
- HYPOPLASIA CEREBELLAR [WHO-ART Preferred Term]
- Hypoplasia cerebellar [MedDRA LLT]
- Isolated cerebellar agenesis [ORDO Disease]
- congenital cerebellar hypoplasia [SNOMED Notion]
Validated automatic mappings to BTNT
- Congenital Cerebellar Hypoplasia [NCIt concept]