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1479009: 20q partial trisomy (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
4555937013 20q partial trisomy (disorder) en Fully specified name Active Case insensitive SNOMED CT core
4555938015 20q partial trisomy en Synonym Active Case insensitive SNOMED CT core

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
20q partial trisomy Occurrence Congenital true Inferred relationship Some 2
20q partial trisomy Finding site Long arm of chromosome true Inferred relationship Some 2
20q partial trisomy Associated morphology Partial trisomy true Inferred relationship Some 2
20q partial trisomy Is a Trisomy and partial trisomy of autosome false Inferred relationship Some
20q partial trisomy Is a Anomaly of chromosome pair 20 false Inferred relationship Some
20q partial trisomy Associated morphology Congenital anomaly false Inferred relationship Some 1
20q partial trisomy Associated morphology Congenital anomaly false Inferred relationship Some
20q partial trisomy Finding site Chromosome pair 20 false Inferred relationship Some 1
20q partial trisomy Occurrence Congenital true Inferred relationship Some 1
20q partial trisomy Finding site Chromosome pair 20 true Inferred relationship Some 1
20q partial trisomy Associated morphology Partial trisomy true Inferred relationship Some 1
20q partial trisomy Is a Partial trisomy of chromosome 20 true Inferred relationship Some
20q partial trisomy Occurrence Congenital false Inferred relationship Some
20q partial trisomy Associated morphology Alteration of chromosome structure false Inferred relationship Some
20q partial trisomy Finding site Chromosome pair 20 false Inferred relationship Some 1
20q partial trisomy Associated morphology Trisomy false Inferred relationship Some
20q partial trisomy Finding site Sex chromosome false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
20q11.2 microduplication syndrome Is a True 20q partial trisomy Inferred relationship Some
Distal trisomy 20q syndrome Is a True 20q 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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