Omphalocele-cleft palate syndrome, lethal

Preferred Label : Omphalocele-cleft palate syndrome, lethal;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Cleft palate-omphalocele syndrome, lethal;

Description : Czeizel (1983) described a lethal syndrome in 3 daughters of normal unrelated parents: one died at 2 months with omphalocele, posterior cleft palate, and uterus bicornis; the second died at 4 months with omphalocele, uvula duplex, and hydrocephalus internus; the third died at 1 year with omphalocele and cleft palate. *FIELD* RF 1. Czeizel, A.: New lethal omphalocele-cleft palate syndrome? Hum. Genet. 64: 99 only, 1983. *FIELD* CS;

Inheritance : Autosomal recessive;

Prefixed ID : 258320;

Details

Origin ID

258320;

UMLS CUI

C1850317;

Currated CISMeF NLP mapping
- Lethal omphalocele with cleft palate syndrome (disorder) [SNOMED CT concept]
- Lethal omphalocele-cleft palate syndrome [ORDO Disease]
- Omphalocele cleft palate syndrome lethal [MeSH concept]
- omphalocele cleft palate syndrome lethal [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bicornuate uterus [HPO term]
- Bifid uvula [HPO term]
- Cleft palate [HPO term]
- Death in infancy [HPO term]
- Hydrocephalus [HPO term]
- Omphalocele [HPO term]
ORDO concept(s)
- Lethal omphalocele-cleft palate syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lethal omphalocele with cleft palate syndrome (disorder) [SNOMED CT concept]
- Lethal omphalocele-cleft palate syndrome [ORDO Disease]
- Omphalocele cleft palate syndrome lethal [MeSH concept]
- omphalocele cleft palate syndrome lethal [MeSH Supplementary Concept]

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