Marfanoid craniosynostosis syndrome

Preferred Label : Marfanoid craniosynostosis syndrome;

ICD-11 definition : Shprintzen-Goldberg syndrome is a rare disorder that is usually characterized by a marfanoid habitus, with craniofacial (craniosynostosis, characteristic dysmorphic facial features), skeletal and cardiovascular abnormalities, and learning disabilities.;

ICD-11 synonym : Shprintzen-Goldberg;

ICD-11 inclusion : Shprintzen-Goldberg;

Details

Origin ID

1006932112;

UMLS CUI

C1321551;

Currated CISMeF NLP mapping
- Shprintzen Golberg craniosynostosis [MeSH concept]
- Shprintzen Goldberg craniosynostosis syndrome (disorder) [SNOMED CT concept]
- Shprintzen-Goldberg Craniosynostosis Syndrome [NCIt concept]
- Shprintzen-Goldberg syndrome [ORDO Disease]
- 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]
- Shprintzen Golberg craniosynostosis [MeSH concept]
- Shprintzen Goldberg craniosynostosis syndrome (disorder) [SNOMED CT concept]
- Shprintzen-Goldberg Craniosynostosis Syndrome [NCIt concept]
- Shprintzen-Goldberg syndrome [ORDO Disease]
- Shprintzen-Goldberg syndrome [MedDRA Preferred Term]
- Shprintzen-goldberg craniosynostosis syndrome [OMIM Phenotype]
- shprintzen golberg craniosynostosis [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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