shprintzen golberg craniosynostosis

Preferred Label : shprintzen golberg craniosynostosis;

MeSH synonym : shprintzen golberg craniosynostosis syndrome; marfanoid craniosynostosis syndrome; craniosynostosis and marfanoid disorder, type 1; craniosynostosis with arachnodactyly and abdominal hernias; marfanoid disorder with craniosynostosis, type I; Shprintzen-Goldberg craniosynostosis syndrome; Shprintzen-Goldberg syndrome; Marfanoid-Craniosynostosis syndrome;

Details

Origin ID

C537328;

UMLS CUI

C1321551;

Automatic exact mappings (from CISMeF team)
- Goldberg-shprintzen syndrome [OMIM Phenotype]
- Shprintzen-Goldberg syndrome [MedDRA Preferred Term]
CISMeF manual mappings
- Shprintzen Goldberg craniosynostosis syndrome (disorder) [SNOMED CT concept]
- Shprintzen-Goldberg syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Marfanoid craniosynostosis syndrome [ICD-11 More detail]
- Shprintzen-Goldberg Craniosynostosis Syndrome [NCIt concept]
- Shprintzen-goldberg craniosynostosis syndrome [OMIM Phenotype]
False automatic mappings
- Goldberg-Shprintzen syndrome [DO Concept]
MeSH term(s) associated for indexing
- arachnodactyly [MeSH Descriptor]
- craniosynostoses [MeSH Descriptor]
- marfan syndrome [MeSH Descriptor]
ORDO relation(s)
- Shprintzen-Goldberg syndrome [ORDO Disease]
Record concept(s)
- Shprintzen Golberg craniosynostosis [MeSH concept]
See also inter- (CISMeF)
- Goldberg-Shprintzen megacolon syndrome [ORDO Disease]
- Goldberg-shprintzen syndrome [OMIM Phenotype]
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 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]

Keyword's position in hierarchy(ies) :

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