764435003: 17q12 microduplication syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17\17q partial trisomy syndrome\17q12 microduplication syndrome
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17\17q partial trisomy syndrome\17q12 microduplication syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Partial trisomy of chromosome 17\17q partial trisomy syndrome\17q12 microduplication syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17\17q partial trisomy syndrome\17q12 microduplication syndrome
• \Congenital disease\Congenital chromosomal disease\...
• \Anomaly of chromosome pair\Anomaly of chromosome pair 17\Partial trisomy of chromosome 17\17q partial trisomy syndrome\17q12 microduplication syndrome
• \Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17\17q partial trisomy syndrome\17q12 microduplication syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3649826017	Chromosome 17q12 duplication syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3649827014	17q12 duplication syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3649828016	17q12 microduplication syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3649829012	17q12 microduplication syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3649830019	Trisomy 17q12	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3649599014	Syndrome with significant variations in manifestations even among members of the same family. Some affected individuals have no apparent signs or symptoms or only mild features, while others may have intellectual disability, delayed development and a wide range of physical abnormalities. Seizures are common and autistic spectrum disorder, schizophrenia, aggression, self-injury have been reported. Microcephaly, abnormalities of the eyes, heart, kidneys and brain are also associated features.	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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