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30361005: 1q partial monosomy (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
4555235014 1q partial monosomy en Synonym Active Case insensitive SNOMED CT core
4555236010 1q partial monosomy (disorder) en Fully specified name Active Case insensitive SNOMED CT core

6 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
1q partial monosomy Finding site Long arm of chromosome true Inferred relationship Some 2
1q partial monosomy Associated morphology Partial monosomy true Inferred relationship Some 2
1q partial monosomy Is a Deletion of part of autosome false Inferred relationship Some
1q partial monosomy Is a Anomaly of chromosome pair 1 false Inferred relationship Some
1q partial monosomy Associated morphology Congenital anomaly false Inferred relationship Some 2
1q partial monosomy Associated morphology Partial monosomy false Inferred relationship Some 1
1q partial monosomy Finding site Chromosome pair 1 false Inferred relationship Some 1
1q partial monosomy Associated morphology Partial monosomy false Inferred relationship Some
1q partial monosomy Associated morphology Congenital anomaly false Inferred relationship Some
1q partial monosomy Occurrence Congenital true Inferred relationship Some 1
1q partial monosomy Finding site Chromosome pair 1 true Inferred relationship Some 1
1q partial monosomy Associated morphology Partial monosomy true Inferred relationship Some 1
1q partial monosomy Occurrence Congenital true Inferred relationship Some 2
1q partial monosomy Associated morphology Deletion of long arm false Inferred relationship Some 2
1q partial monosomy Finding site Chromosome pair 1 false Inferred relationship Some 2
1q partial monosomy Is a Deletion of part of chromosome 1 true Inferred relationship Some
1q partial monosomy Associated morphology Deletion of long arm false Inferred relationship Some
1q partial monosomy Occurrence Congenital false Inferred relationship Some
1q partial monosomy Finding site Sex chromosome false Inferred relationship Some
1q partial monosomy Finding site Chromosome pair 1 false Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Medial deletion of long arm of chromosome 1 Is a True 1q partial monosomy Inferred relationship Some
Proximal deletion of long arm of chromosome 1 Is a True 1q partial monosomy Inferred relationship Some
Distal monosomy 1q syndrome Is a True 1q partial monosomy Inferred relationship Some
1q21.1 microdeletion Is a True 1q partial monosomy Inferred relationship Some
1q41q42 microdeletion syndrome Is a True 1q partial monosomy Inferred relationship Some
1q44 microdeletion syndrome Is a True 1q partial monosomy Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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