773325004: Distal 7q11.23 microduplication syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7\7q partial trisomy\Distal 7q11.23 microduplication syndrome
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7\7q partial trisomy\Distal 7q11.23 microduplication syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 7\Trisomy 7\Partial trisomy of chromosome 7\7q partial trisomy\Distal 7q11.23 microduplication syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7\7q partial trisomy\Distal 7q11.23 microduplication syndrome
• \Congenital disease\Congenital anomaly\Distal 7q11.23 microduplication syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 7\Trisomy 7\Partial trisomy of chromosome 7\7q partial trisomy\Distal 7q11.23 microduplication syndrome
• \Congenital disease\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7\7q partial trisomy\Distal 7q11.23 microduplication syndrome
• \Developmental disorder\Congenital anomaly\Distal 7q11.23 microduplication syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723178015	Distal trisomy 7q11.23	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3723180014	Distal 7q11.23 microduplication syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3723181013	Distal 7q11.23 microduplication syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3723179011	A rare chromosomal anomaly with characteristics of a predominantly neuropsychiatric phenotype with a few dysmorphic features. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.	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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