Shprintzen-Goldberg Craniosynostosis Syndrome

Preferred Label : Shprintzen-Goldberg Craniosynostosis Syndrome;

NCIt definition : A rare, autosomal dominant inherited syndrome often caused by mutations in the SKI gene. It is characterized by premature fusion of skull bones and distinctive facial features, including a long, narrow head, hypertelorism, exophthalmos, downslanting palpebral fissures, a high, narrow palate, micrognathia, and low-set ears. The bodies of affected individuals resemble those of people with Marfan syndrome.;

Details

Origin ID

C124840;

UMLS CUI

C1321551;

Currated CISMeF NLP mapping
- Marfanoid craniosynostosis syndrome [ICD-11 More detail]
- Shprintzen Golberg craniosynostosis [MeSH concept]
- Shprintzen Goldberg craniosynostosis syndrome (disorder) [SNOMED CT concept]
- Shprintzen-goldberg craniosynostosis syndrome [OMIM Phenotype]
- shprintzen golberg craniosynostosis [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 22q11.2 deletion syndrome [MedDRA Preferred Term]
- 22q11.2 deletion syndrome (disorder) [SNOMED CT concept]
- Marfanoid craniosynostosis syndrome [ICD-11 More detail]
- Shprintzen Golberg craniosynostosis [MeSH concept]
- Shprintzen Goldberg craniosynostosis syndrome (disorder) [SNOMED CT concept]
- Shprintzen-Goldberg syndrome [ORDO Disease]
- Shprintzen-Goldberg syndrome [MedDRA Preferred Term]
- Shprintzen-goldberg craniosynostosis syndrome [OMIM Phenotype]
- shprintzen golberg craniosynostosis [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
related_to_genetic_biomarker
- SKI Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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