51819009: 17p partial trisomy 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

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17p partial trisomy syndrome

\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
\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
\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
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17p partial trisomy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

86285011 17p partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

789760011 17p partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4559031000241119 trisomie partielle 17p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
17p partial trisomy syndrome	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
17p partial trisomy syndrome	Is a	Anomaly of chromosome pair 17	false	Inferred relationship	Some
17p partial trisomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
17p partial trisomy syndrome	Associated morphology	Trisomy	false	Inferred relationship	Some
17p partial trisomy syndrome	Finding site	Chromosome pair 17	false	Inferred relationship	Some	1
17p partial trisomy syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
17p partial trisomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
17p partial trisomy syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
17p partial trisomy syndrome	Finding site	Chromosome pair 17	false	Inferred relationship	Some	1
17p partial trisomy syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
17p partial trisomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
17p partial trisomy syndrome	Finding site	Chromosome pair 17	true	Inferred relationship	Some	1
17p partial trisomy syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
17p partial trisomy syndrome	Is a	Partial trisomy of chromosome 17 (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.	Is a	True	17p partial trisomy syndrome	Inferred relationship	Some
17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.	Is a	True	17p partial trisomy syndrome	Inferred relationship	Some
17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.	Is a	True	17p partial trisomy syndrome	Inferred relationship	Some

This concept is not in any reference sets