719646006: 8p11.2 deletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 8\8p partial monosomy syndrome\8p11.2 deletion syndrome
• \Anomaly of chromosome pair 8\Deletion of part of chromosome 8\8p partial monosomy syndrome\8p11.2 deletion syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 8\8p partial monosomy syndrome\8p11.2 deletion syndrome
• \Anomaly of chromosome pair 8\Deletion of part of chromosome 8\8p partial monosomy syndrome\8p11.2 deletion syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3317474016	8p11.2 deletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3317475015	8p11.2 deletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3317476019	Monosomy 8p11.2	en	Synonym	Active	Case insensitive	SNOMED CT core
3317477011	A contiguous gene syndrome with characteristics of the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism. It has been described in 8 patients to date. Common dysmorphic features include micrognathia, microcephaly, preauricular pits, high-arched palate and abnormal ears. All patients except one have intellectual deficit. The syndrome is caused by deletions of the proximal part of the short arm of chromosome 8 (8p11.1 to 8p21). The deletions can be cytogenetically detected and their size is variable. The loss of the ankyrin-1 gene (ANK1) results in congenital spherocytosis.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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