shprintzen omphalocele syndrome

Preferred Label : shprintzen omphalocele syndrome;

MeSH note : Omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis; Omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis;

MeSH synonym : pharynx and larynx hypoplasia with omphalocele; Shprintzen-Goldberg omphalocele syndrome; laryngeal and pharyngeal hypoplasia with omphalocele;

Details

Origin ID

C537329;

UMLS CUI

C1866958;

Automatic exact mappings (from CISMeF team)
- Shprintzen-Goldberg omphalocele syndrome [ICD-11 More detail]
CISMeF manual mappings
- Omphalocele syndrome, Shprintzen-Goldberg type [ORDO Disease]
Currated CISMeF NLP mapping
- Shprintzen omphalocele syndrome [OMIM Phenotype]
Has phenotype(s) (HPO)
- Minor facial dysmorphism [HPO term]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- facies [MeSH Descriptor]
- hernia, umbilical [MeSH Descriptor]
- larynx [MeSH Descriptor]
- pharynx [MeSH Descriptor]
- scoliosis [MeSH Descriptor]
Record concept(s)
- Shprintzen omphalocele syndrome [MeSH concept]
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 [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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