724098008: Monosomy 9q22.3 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 9\9q partial monosomy syndrome\Monosomy 9q22.3 syndrome
• \Anomaly of chromosome pair 9\Deletion of part of chromosome 9\9q partial monosomy syndrome\Monosomy 9q22.3 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 9\9q partial monosomy syndrome\Monosomy 9q22.3 syndrome
• \Anomaly of chromosome pair 9\Deletion of part of chromosome 9\9q partial monosomy syndrome\Monosomy 9q22.3 syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3430703018	Monosomy 9q22.3 syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3430704012	Monosomy 9q22.3 syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3430705013	Microdeletion 9q22.3	en	Synonym	Active	Case insensitive	SNOMED CT core
3430706014	Monosomy 9q22.3	en	Synonym	Active	Case insensitive	SNOMED CT core
4009498017	9q22.3 deletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3430707017	Syndrome associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.	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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