pontocerebellar hypoplasia type 1

Preferred Label : pontocerebellar hypoplasia type 1;

MeSH note : Pch1 not included;

MeSH synonym : pontocerebellar hypoplasia with anterior horn cell disease; pontocerebellar hypoplasia with infantile spinal muscular atrophy; Pontocerebellar Hypoplasia, Type 1a;

Details

Origin ID

C548069;

UMLS CUI

C1843504;

Automatic exact mappings (from CISMeF team)
- pontocerebellar hypoplasia type 1A [DO Concept]
Currated CISMeF NLP mapping
- Congenital pontocerebellar hypoplasia type 1 (disorder) [SNOMED CT concept]
- Pontocerebellar hypoplasia type 1 [ICD-11 More detail]
- Pontocerebellar hypoplasia type 1 [ORDO Disease]
- Pontocerebellar hypoplasia, type 1a [OMIM Phenotype]
MeSH term(s) associated for indexing
- olivopontocerebellar atrophies [MeSH Descriptor]
ORDO relation(s)
- Pontocerebellar hypoplasia type 1 [ORDO Disease]
Record concept(s)
- Pontocerebellar Hypoplasia Type 1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital pontocerebellar hypoplasia type 1 (disorder) [SNOMED CT concept]
- Pontocerebellar hypoplasia type 1 [ORDO Disease]
- Pontocerebellar hypoplasia, type 1a [OMIM Phenotype]

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