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

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322155011	Craniosynostosis with facial dysmorphism and brachydactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322156012	Glass Chapman Hockley syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3888531000052110	syndrom med kraniosynostos med ansiktsmissbildning och brakydaktyli	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)

Back to Start