720814001: Craniosynostosis with facial dysmorphism and brachydactyly syndrome (disorder)

Status: retired, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3322154010	Craniosynostosis with facial dysmorphism and brachydactyly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3322155011	Craniosynostosis with facial dysmorphism and brachydactyly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3322156012	Glass Chapman Hockley syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3322157015	This syndrome has a variable clinical picture of premature coronal suture synostosis with a mild midfacial hypoplasia and hypertelorism, downslanting external palpebral fissures, beaking of the nose and brachydactyly (involving only fingers, not metacarpals). It has been reported in only one family with five affected individuals in three generations. Prenatal diagnosis of abnormal head shape was done at a routine ultrasound examination for one of the grandchildren, at 28 weeks of pregnancy. The pedigree suggests an autosomal dominantly inherited condition, but no gene could be identified for this syndrome, considered as a distinct craniosynostosis entity.	en	Definition	Active	Case sensitive	SNOMED CT core

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