Porencephaly, cerebellar hypoplasia, and internal malformations

Preferred Label : Porencephaly, cerebellar hypoplasia, and internal malformations;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 601322;

Details

Origin ID

601322;

UMLS CUI

C1832472;

Currated CISMeF NLP mapping
- Porencephaly cerebellar hypoplasia malformations [MeSH concept]
- Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) [SNOMED CT concept]
- Porencephaly-cerebellar hypoplasia-internal malformations syndrome [ORDO Disease]
- porencephaly cerebellar hypoplasia malformations [MeSH Supplementary Concept]
HPO term(s)
- Agenesis of cerebellar vermis [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Porencephalic cyst [HPO term]
- Situs inversus totalis [HPO term]
- Tetralogy of Fallot [HPO term]
ORDO concept(s)
- Porencephaly-cerebellar hypoplasia-internal malformations syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Porencephaly cerebellar hypoplasia malformations [MeSH concept]
- Porencephaly-cerebellar hypoplasia-internal malformations syndrome [ORDO Disease]
- porencephaly cerebellar hypoplasia malformations [MeSH Supplementary Concept]

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