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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

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

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