Shprintzen omphalocele syndrome

Preferred Label : Shprintzen omphalocele syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis; Pharynx and larynx hypoplasia with omphalocele;

Inheritance : Autosomal dominant;

Prefixed ID : 182210;

Détails

Origin ID

182210;

UMLS CUI

C1866958;

Currated CISMeF NLP mapping
- Omphalocele syndrome, Shprintzen-Goldberg type [ORDO Disease]
- Shprintzen omphalocele syndrome [MeSH concept]
- shprintzen omphalocele syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormality of the mouth [HPO term]
- Anal atresia [HPO term]
- Anteroposteriorly shortened larynx [HPO term]
- Autosomal dominant inheritance [HPO term]
- Decreased body weight [HPO term]
- Epicanthus [HPO term]
- Flared nostrils [HPO term]
- Generalized hypotonia [HPO term]
- High pitched voice [HPO term]
- Hypoplasia of the pharynx [HPO term]
- Hypotonia [HPO term]
- Kyphosis [HPO term]
- Laryngeal hypoplasia [HPO term]
- Lumbar hyperlordosis [HPO term]
- Minor facial dysmorphism [HPO term]
- Narrow chest [HPO term]
- Neonatal respiratory distress [HPO term]
- Omphalocele [HPO term]
- Scoliosis [HPO term]
- Short columella [HPO term]
- Short stature [HPO term]
- Single umbilical artery [HPO term]
- Specific learning disability [HPO term]
- Thin vermilion border [HPO term]
- Webbed neck [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Omphalocele syndrome, Shprintzen-Goldberg type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Omphalocele syndrome, Shprintzen-Goldberg type [ORDO Disease]
- Shprintzen Goldberg omphalocele syndrome (disorder) [SNOMED CT concept]
- Shprintzen omphalocele syndrome [MeSH concept]
- shprintzen omphalocele syndrome [MeSH Supplementary Concept]

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