young McKeever squier syndrome

Preferred Label : young McKeever squier syndrome;

Définition CISMeF : Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.;

MeSH note : Pch4 not included;

CISMeF acronym : PCH4;

MeSH synonym : olivopontocerebellar hypoplasia lethal type; encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia; pontocerebellar hypoplasia type 4;

Details

Origin ID

C536716;

UMLS CUI

C1856974;

Automatic exact mappings (from CISMeF team)
- Prostate cancer, hereditary, 4 [OMIM Phenotype]
CISMeF manual mappings
- Congenital pontocerebellar hypoplasia type 4 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Pontocerebellar hypoplasia type 4 [ICD-11 More detail]
- Pontocerebellar hypoplasia type 4 [ORDO Disease]
- Pontocerebellar hypoplasia, type 4 [OMIM Phenotype]
- pontocerebellar hypoplasia type 4 [DO Concept]
- pontocerebellar hypoplasia type 4 [Disease (Nov.)]
DO Cross reference
- pontocerebellar hypoplasia type 4 [DO Concept]
MeSH term(s) associated for indexing
- olivopontocerebellar atrophies [MeSH Descriptor]
ORDO relation(s)
- Pontocerebellar hypoplasia type 4 [ORDO Disease]
Record concept(s)
- young McKeever squier syndrome [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital pontocerebellar hypoplasia type 4 (disorder) [SNOMED CT concept]
- Pontocerebellar hypoplasia type 4 [ORDO Disease]
- Pontocerebellar hypoplasia, type 4 [OMIM Phenotype]
- pontocerebellar hypoplasia type 4 [DO Concept]
- pontocerebellar hypoplasia type 4 [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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