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74008005: Partial trisomy of short arm of chromosome 5 (disorder)

Status: current, Defined. Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4565130013 5p partial trisomy en Synonym Active Case insensitive SNOMED CT core
4565139014 Partial trisomy of short arm of chromosome 5 en Synonym Active Case insensitive SNOMED CT core
4565140011 Partial trisomy of short arm of chromosome 5 (disorder) en Fully specified name Active Case insensitive SNOMED CT core

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
5p partial trisomy Occurrence Congenital true Inferred relationship Some 2
5p partial trisomy Finding site Short arm of chromosome true Inferred relationship Some 2
5p partial trisomy Associated morphology Partial trisomy true Inferred relationship Some 2
5p partial trisomy Associated morphology Congenital anomaly false Inferred relationship Some 1
5p partial trisomy Is a Trisomy and partial trisomy of autosome false Inferred relationship Some
5p partial trisomy Is a Anomaly of chromosome pair 5 false Inferred relationship Some
5p partial trisomy Associated morphology Congenital anomaly false Inferred relationship Some
5p partial trisomy Finding site Chromosome pair 5 false Inferred relationship Some 1
5p partial trisomy Occurrence Congenital true Inferred relationship Some 1
5p partial trisomy Finding site Chromosome pair 5 true Inferred relationship Some 1
5p partial trisomy Associated morphology Partial trisomy true Inferred relationship Some 1
5p partial trisomy Is a Partial trisomy of chromosome 5 true Inferred relationship Some
5p partial trisomy Finding site Chromosome pair 5 false Inferred relationship Some 1
5p partial trisomy Finding site Sex chromosome false Inferred relationship Some
5p partial trisomy Occurrence Congenital false Inferred relationship Some
5p partial trisomy Associated morphology Trisomy false Inferred relationship Some
5p partial trisomy Associated morphology Alteration of chromosome structure false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
5p13 microduplication syndrome Is a True 5p partial trisomy Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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