771337007: 1q21.1 microduplication syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\1q21.1 microduplication syndrome (disorder)
• \Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\1q21.1 microduplication syndrome (disorder)
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\1q21.1 microduplication syndrome (disorder)
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\1q21.1 microduplication syndrome (disorder)
• \Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\1q21.1 microduplication syndrome (disorder)
• \Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\1q21.1 microduplication syndrome (disorder)
• \Congenital disease (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\1q21.1 microduplication syndrome (disorder)
• \Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\1q21.1 microduplication syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3705811011	1q21.1 microduplication syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705812016	Trisomy 1q21.1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705813014	1q21.1 microduplication syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3705814015	A rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression. The syndrome has characteristics of macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4211091000052117	1q21.1-mikroduplikationssyndromet	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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