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
2479971000052116 partiell trisomi 18 i Edwards syndrom sv Synonym (core metadata concept) Active Only initial character 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 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	kongenital anomali	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	kongenital anomali	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