pontocerebellar hypoplasia type 2

Preferred Label : pontocerebellar hypoplasia type 2;

Définition CISMeF : Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty.;

CISMeF acronym : PCH2;

Détails

Origin ID

C548070;

UMLS CUI

C2932714;

Automatic exact mappings (from CISMeF team)
- Pontocerebellar hypoplasia, type 2a [OMIM Phenotype]
- Prostate cancer, hereditary, 2 [OMIM Phenotype]
- TRIP13 wt Allele [NCIt concept]
CISMeF manual mappings
- Congenital pontocerebellar hypoplasia type 2 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Pontocerebellar Hypoplasia Type 2 [NCIt concept]
- Pontocerebellar hypoplasia type 2 [ICD-11 More detail]
- Pontocerebellar hypoplasia type 2 [ORDO Disease]
- pontocerebellar hypoplasia type 2 [Disease (Nov.)]
MeSH term(s) associated for indexing
- olivopontocerebellar atrophies [MeSH Descriptor]
ORDO relation(s)
- Pontocerebellar hypoplasia type 2 [ORDO Disease]
Record concept(s)
- Pontocerebellar Hypoplasia Type 2 [MeSH 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 [NCIt concept]
- Pontocerebellar hypoplasia type 2 [ORDO Disease]
- pontocerebellar hypoplasia type 2 [Disease (Nov.)]

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