254268004: Partial trisomy 13 in Patau's syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 13\Partial trisomy 13 in Patau's syndrome

\Trisomy and partial trisomy of autosome\Partial trisomy 13 in Patau's syndrome

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy 13 in Patau's syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy 13 in Patau's syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 13\Partial trisomy 13 in Patau's syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy 13 in Patau'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

378500015 Partial trisomy 13 in Patau's syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

378501016 Trisomy 13 - translocation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

645136014 Partial trisomy 13 in Patau's syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2838921016 Partial trisomy 13 in Patau syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Partial trisomy 13 in Patau's syndrome	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Partial trisomy 13 in Patau's syndrome	Is a	Anomaly of chromosome pair 13	true	Inferred relationship	Some
Partial trisomy 13 in Patau's syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Partial trisomy 13 in Patau's syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	1
Partial trisomy 13 in Patau's syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Partial trisomy 13 in Patau's syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
Partial trisomy 13 in Patau's syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Partial trisomy 13 in Patau's syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some
Partial trisomy 13 in Patau's syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	1
Partial trisomy 13 in Patau's syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Partial trisomy 13 in Patau's syndrome	Finding site	Chromosome pair 13	true	Inferred relationship	Some	1
Partial trisomy 13 in Patau's syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets