game friedman paradice syndrome

Preferred Label : game friedman paradice syndrome;

Définition CISMeF : Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.;

MeSH note : Retarded growth, hydrocephalus, micrognathia, intestinal malrotation, omphalocele, short lower limbs and foot deformities;

MeSH synonym : hydrocephalus with associated malformations;

Details

Origin ID

C535406;

UMLS CUI

C1856052;

Currated CISMeF NLP mapping
- Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) [SNOMED CT concept]
- Growth delay-hydrocephaly-lung hypoplasia syndrome [ORDO Disease]
- Hydrocephalus with associated malformations [OMIM Phenotype]
MeSH term(s) associated for indexing
- craniofacial abnormalities [MeSH Descriptor]
- foot deformities, congenital [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- hydrocephalus [MeSH Descriptor]
- intestines [MeSH Descriptor]
Record concept(s)
- Game Friedman Paradice syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder) [SNOMED CT concept]
- Growth delay-hydrocephaly-lung hypoplasia syndrome [ORDO Disease]
- Hydrocephalus with associated malformations [OMIM Phenotype]

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