40389006: 12q 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\Trisomy 12\Partial trisomy of chromosome 12\12q partial trisomy syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 12\Partial trisomy of chromosome 12\12q partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 12\Trisomy 12\Partial trisomy of chromosome 12\12q partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 12\Partial trisomy of chromosome 12\12q partial trisomy syndrome

\Congenital disease (disorder)\Congenital chromosomal disease\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 12\Trisomy 12\Partial trisomy of chromosome 12\12q partial trisomy syndrome

\Trisomy and partial trisomy of autosome\Trisomy 12\Partial trisomy of chromosome 12\12q 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

67333011 12q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

777022011 12q partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2478961000052119 partiellt trisomi 12q-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
12q partial trisomy syndrome	Is a	Anomaly of chromosome pair 12	false	Inferred relationship	Some
12q partial trisomy syndrome	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
12q partial trisomy syndrome	Finding site	Chromosome pair 12	false	Inferred relationship	Some	1
12q partial trisomy syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
12q partial trisomy syndrome	Associated morphology	Trisomy	false	Inferred relationship	Some
12q partial trisomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
12q partial trisomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
12q partial trisomy syndrome	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
12q partial trisomy syndrome	Associated morphology	kongenital anomali	false	Inferred relationship	Some
12q partial trisomy syndrome	Finding site	Chromosome pair 12	false	Inferred relationship	Some	1
12q partial trisomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
12q partial trisomy syndrome	Finding site	Chromosome pair 12	true	Inferred relationship	Some	1
12q partial trisomy syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
12q partial trisomy syndrome	Is a	Partial trisomy of chromosome 12	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Distal trisomy 12q (disorder)	Is a	True	12q partial trisomy syndrome	Inferred relationship	Some
Proximal duplication of long arm of chromosome 12	Is a	True	12q partial trisomy syndrome	Inferred relationship	Some

This concept is not in any reference sets