pontocerebellar hypoplasia type 3

Preferred Label : pontocerebellar hypoplasia type 3;

Définition CISMeF : Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.;

MeSH note : Pch3 not included;

CISMeF acronym : PCH3;

MeSH synonym : cerebellar atrophy with progressive microcephaly; pch with optic atrophy;

Details

Origin ID

C548072;

UMLS CUI

C1842687;

Automatic exact mappings (from CISMeF team)
- Prostate cancer, hereditary, 3 [OMIM Phenotype]
CISMeF manual mappings
- Congenital pontocerebellar hypoplasia type 3 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Pontocerebellar hypoplasia type 3 [ICD-11 More detail]
- Pontocerebellar hypoplasia type 3 [ORDO Disease]
- Pontocerebellar hypoplasia, type 3 [OMIM Phenotype]
- pontocerebellar hypoplasia type 3 [DO Concept]
DO Cross reference
- pontocerebellar hypoplasia type 3 [DO Concept]
MeSH term(s) associated for indexing
- olivopontocerebellar atrophies [MeSH Descriptor]
ORDO relation(s)
- Pontocerebellar hypoplasia type 3 [ORDO Disease]
Record concept(s)
- Pontocerebellar Hypoplasia Type 3 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital pontocerebellar hypoplasia type 3 (disorder) [SNOMED CT concept]
- Pontocerebellar hypoplasia type 3 [ORDO Disease]
- Pontocerebellar hypoplasia, type 3 [OMIM Phenotype]
- pontocerebellar hypoplasia type 3 [DO Concept]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients