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48812004: 17q partial trisomy syndrome (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
786422019 17q partial trisomy syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
81340012 17q partial trisomy syndrome en Synonym Active Case insensitive SNOMED CT core

8 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
17q partial trisomy syndrome Is a Trisomy and partial trisomy of autosome false Inferred relationship Some
17q partial trisomy syndrome Is a Anomaly of chromosome pair 17 false Inferred relationship Some
17q partial trisomy syndrome Associated morphology Congenital anomaly false Inferred relationship Some 1
17q partial trisomy syndrome Associated morphology Congenital anomaly false Inferred relationship Some
17q partial trisomy syndrome Finding site Chromosome pair 17 false Inferred relationship Some 1
17q partial trisomy syndrome Occurrence Congenital true Inferred relationship Some 1
17q partial trisomy syndrome Finding site Chromosome pair 17 true Inferred relationship Some 1
17q partial trisomy syndrome Associated morphology Partial trisomy true Inferred relationship Some 1
17q partial trisomy syndrome Is a Partial trisomy of chromosome 17 true Inferred relationship Some
17q partial trisomy syndrome Finding site Sex chromosome false Inferred relationship Some
17q partial trisomy syndrome Finding site Chromosome pair 17 false Inferred relationship Some 1
17q partial trisomy syndrome Associated morphology Alteration of chromosome structure false Inferred relationship Some
17q partial trisomy syndrome Occurrence Congenital false Inferred relationship Some
17q partial trisomy syndrome Associated morphology Trisomy false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
17q23.1-q23.2 duplication syndrome Is a True 17q partial trisomy syndrome Inferred relationship Some
Proximal duplication of long arm of chromosome 17 Is a True 17q partial trisomy syndrome Inferred relationship Some
PMP22-RAI1 contiguous gene duplication syndrome Is a True 17q partial trisomy syndrome Inferred relationship Some
17q21.31 microduplication syndrome Is a True 17q partial trisomy syndrome Inferred relationship Some
17q11.2 microduplication syndrome Is a True 17q partial trisomy syndrome Inferred relationship Some
17q12 microduplication syndrome Is a True 17q partial trisomy syndrome Inferred relationship Some
Distal trisomy 17q Is a True 17q partial trisomy syndrome Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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