51819009: 17p partial trisomy 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 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

\Congenital disease (disorder)\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

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

2479871000052114 partiellt trisomi 17p-syndrom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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	kongenital anomali	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	kongenital anomali	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 (disorder)	Is a	True	17p partial trisomy syndrome	Inferred relationship	Some
17p13.3 microduplication syndrome (disorder)	Is a	True	17p partial trisomy syndrome	Inferred relationship	Some
17p11.2 microduplication syndrome (disorder)	Is a	True	17p partial trisomy syndrome	Inferred relationship	Some

This concept is not in any reference sets