766816008: 2q23.1 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 2\2q partial trisomy syndrome\2q23.1 microduplication syndrome
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2\2q partial trisomy syndrome\2q23.1 microduplication syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Partial trisomy of chromosome 2\2q partial trisomy syndrome\2q23.1 microduplication syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2\2q partial trisomy syndrome\2q23.1 microduplication syndrome
• \Congenital disease\Congenital chromosomal disease\...
• \Anomaly of chromosome pair\Anomaly of chromosome pair 2\Partial trisomy of chromosome 2\2q partial trisomy syndrome\2q23.1 microduplication syndrome
• \Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2\2q partial trisomy syndrome\2q23.1 microduplication syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3662714013	2q23.1 microduplication syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3662715014	2q23.1 microduplication syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3662716010	Trisomy 2q23.1	en	Synonym	Active	Case insensitive	SNOMED CT core
3662717018	A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioral problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.	en	Definition	Active	Case sensitive	SNOMED CT core
3662718011	A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 2, primarily characterised by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally 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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