pontocerebellar hypoplasia type 6

Preferred Label : pontocerebellar hypoplasia type 6;

Définition CISMeF : Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia (see this term) characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.;

MeSH note : Pch6 not included;

CISMeF acronym : PCH6;

MeSH synonym : encephalopathy, fatal infantile, with mitochondrial respiratory chain defects;

Details

Origin ID

C548074;

UMLS CUI

C1969084;

Automatic exact mappings (from CISMeF team)
- Prostate cancer, hereditary, 6 [OMIM Phenotype]
CISMeF manual mappings
- Congenital pontocerebellar hypoplasia type 6 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Pontocerebellar hypoplasia type 6 [ICD-11 More detail]
- Pontocerebellar hypoplasia type 6 [ORDO Disease]
- Pontocerebellar hypoplasia, type 6 [OMIM Phenotype]
- pontocerebellar hypoplasia type 6 [DO Concept]
DO Cross reference
- pontocerebellar hypoplasia type 6 [DO Concept]
MeSH term(s) associated for indexing
- olivopontocerebellar atrophies [MeSH Descriptor]
ORDO relation(s)
- Pontocerebellar hypoplasia type 6 [ORDO Disease]
Record concept(s)
- Pontocerebellar Hypoplasia Type 6 [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital pontocerebellar hypoplasia type 6 (disorder) [SNOMED CT concept]
- Pontocerebellar hypoplasia type 6 [ORDO Disease]
- Pontocerebellar hypoplasia, type 6 [OMIM Phenotype]
- pontocerebellar hypoplasia type 6 [DO Concept]

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