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7586009: 14q partial trisomy (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
13542016 14q partial trisomy syndrome en Synonym Inactive Case insensitive SNOMED CT core
4564198014 14q partial trisomy (disorder) en Fully specified name Active Case insensitive SNOMED CT core
4564203018 14q partial trisomy en Synonym Active Case insensitive SNOMED CT core
816517013 14q partial trisomy syndrome (disorder) en Fully specified name Inactive Case insensitive SNOMED CT core

4 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
14q partial trisomy Occurrence Congenital true Inferred relationship Some 2
14q partial trisomy Finding site Long arm of chromosome true Inferred relationship Some 2
14q partial trisomy Associated morphology Partial trisomy true Inferred relationship Some 2
14q partial trisomy Associated morphology Congenital anomaly false Inferred relationship Some 1
14q partial trisomy Is a Anomaly of chromosome pair 14 false Inferred relationship Some
14q partial trisomy Is a Trisomy and partial trisomy of autosome false Inferred relationship Some
14q partial trisomy Finding site Chromosome pair 14 false Inferred relationship Some 1
14q partial trisomy Associated morphology Congenital anomaly false Inferred relationship Some
14q partial trisomy Occurrence Congenital true Inferred relationship Some 1
14q partial trisomy Finding site Chromosome pair 14 true Inferred relationship Some 1
14q partial trisomy Associated morphology Partial trisomy true Inferred relationship Some 1
14q partial trisomy Is a Partial trisomy of chromosome 14 true Inferred relationship Some
14q partial trisomy Finding site Chromosome pair 14 false Inferred relationship Some 1
14q partial trisomy Finding site Sex chromosome false Inferred relationship Some
14q partial trisomy Occurrence Congenital false Inferred relationship Some
14q partial trisomy Associated morphology Alteration of chromosome structure false Inferred relationship Some
14q partial trisomy Associated morphology Trisomy false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
14q32 duplication syndrome Is a True 14q partial trisomy Inferred relationship Some
14q partial distal trisomy syndrome Is a True 14q partial trisomy Inferred relationship Some
14q partial proximal trisomy syndrome Is a True 14q partial trisomy Inferred relationship Some
14q11.2 microduplication syndrome Is a True 14q 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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