254266000: Partial trisomy 18 in Edward's 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 18 in Edward's syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy 18 in Edward's syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 18\Partial trisomy 18 in Edward's syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy 18 in Edward's syndrome

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

\Anomaly of chromosome pair\Anomaly of chromosome pair 18\Partial trisomy 18 in Edward's syndrome

\Trisomy and partial trisomy of autosome\Partial trisomy 18 in Edward's 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

378497014 Partial trisomy 18 in Edward's syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

378498016 Trisomy 18 - translocation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

645134012 Partial trisomy 18 in Edward's syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2837761012 Partial trisomy 18 in Edward syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5573821000172113 trisomie 18 partielle dans le syndrome d'Edward fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4040931000172115 partiële trisomie 18 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4040941000172110 gedeeltelijke trisomie 18 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Partial trisomy 18 in Edward's syndrome	Is a	Anomaly of chromosome pair 18	true	Inferred relationship	Some
Partial trisomy 18 in Edward's syndrome	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Partial trisomy 18 in Edward's syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
Partial trisomy 18 in Edward's syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
Partial trisomy 18 in Edward's syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Partial trisomy 18 in Edward's syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Partial trisomy 18 in Edward's syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Partial trisomy 18 in Edward's syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
Partial trisomy 18 in Edward's syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some
Partial trisomy 18 in Edward's syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Partial trisomy 18 in Edward's syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Partial trisomy 18 in Edward's syndrome	Finding site	Chromosome pair 18	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets