719582007: 17p13.3 microduplication syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Fetal and/or neonatal disorder\Congenital disease\Congenital chromosomal disease\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Partial trisomy of chromosome 17 (disorder)\17p partial trisomy syndrome\17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17p partial trisomy syndrome\17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17p partial trisomy syndrome\17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17p partial trisomy syndrome\17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Partial trisomy of chromosome 17 (disorder)\17p partial trisomy syndrome\17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17p partial trisomy syndrome\17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5402164010 17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402165011 17p13.3 microduplication syndrome is characterised by variable psychomotor delay and dysmorphic features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3316817019 17p13.3 microduplication syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3316818012 17p13.3 microduplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3316819016 Trisomy 17p13.3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

944831000172119 syndrome de microduplication 17p13.3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

980651000172112 dup(17)(p13.3) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3442891001000119 Mikroduplikationssyndrom 17p13 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.	Is a	17p partial trisomy syndrome	true	Inferred relationship	Some
17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.	Occurrence	Congenital	true	Inferred relationship	Some	1
17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.	Finding site	Chromosome pair 17	true	Inferred relationship	Some	1

Inbound Relationships

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Reference Sets

Component annotation with string value reference set (foundation metadata concept)