Pontocerebellar Hypoplasia Type 2

Preferred Label : Pontocerebellar Hypoplasia Type 2;

NCIt synonyms : PCH2;

NCIt definition : A rare brain developmental disorder caused by mutations in the TSEN54, TSEN2, TSEN34, or SEPSECS gene. The pons and cerebellum are the brain structures that are more severely affected. It is characterized by microcephaly, lack of voluntary motor skills, dysphagia, inability to communicate, abnormal patterns of movement, and spasticity.;

Details

Origin ID

C124057;

UMLS CUI

C2932714;

Currated CISMeF NLP mapping
- Congenital pontocerebellar hypoplasia type 2 (disorder) [SNOMED CT concept]
- Pontocerebellar Hypoplasia Type 2 [MeSH concept]
- Pontocerebellar hypoplasia type 2 [ICD-11 More detail]
- Pontocerebellar hypoplasia type 2 [ORDO Disease]
- pontocerebellar hypoplasia type 2 [MeSH Supplementary Concept]
- pontocerebellar hypoplasia type 2 [Disease (Nov.)]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital pontocerebellar hypoplasia type 2 (disorder) [SNOMED CT concept]
- Pontocerebellar Hypoplasia Type 2 [MeSH concept]
- Pontocerebellar hypoplasia type 2 [ORDO Disease]
- pontocerebellar hypoplasia type 2 [MeSH Supplementary Concept]
- pontocerebellar hypoplasia type 2 [Disease (Nov.)]
Validated automatic mappings to BTNT
- Pontocerebellar hypoplasia, type 2a [OMIM Phenotype]
related_to_genetic_biomarker
- SEPSECS Gene [NCIt concept]

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