205660004: Partial trisomy syndromes (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 syndromes
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy syndromes
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy syndromes

\Congenital disease (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy syndromes

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

315403019 Partial trisomy syndromes en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

591059013 Partial trisomy syndromes (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2480481000052113 partiell trisomi-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
Partial trisomy syndromes	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Partial trisomy syndromes	Occurrence	Congenital	false	Inferred relationship	Some
Partial trisomy syndromes	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Partial trisomy syndromes	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Partial trisomy syndromes	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Partial trisomy syndromes	Associated morphology	kongenital anomali	false	Inferred relationship	Some
Partial trisomy syndromes	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Partial trisomy syndromes	Occurrence	Congenital	true	Inferred relationship	Some	1
Partial trisomy syndromes	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Partial trisomy syndromes	Finding site	Chromosome structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Partial trisomy syndrome NOS	Is a	False	Partial trisomy syndromes	Inferred relationship	Some

This concept is not in any reference sets