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4242009: 18q partial monosomy syndrome (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
779318016 18q partial monosomy syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
8152014 18q partial monosomy syndrome en Synonym Active Case insensitive SNOMED CT core
8153016 18q minus syndrome en Synonym Active Case insensitive SNOMED CT core
8154010 Long arm 18 deletion syndrome en Synonym Active Case insensitive SNOMED CT core

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
18q partial monosomy syndrome Is a Deletion of long arm of chromosome 18 true Inferred relationship Some
18q partial monosomy syndrome Is a Anomaly of chromosome pair 18 false Inferred relationship Some
18q partial monosomy syndrome Associated morphology Congenital anomaly false Inferred relationship Some 1
18q partial monosomy syndrome Finding site Chromosome pair 18 false Inferred relationship Some 1
18q partial monosomy syndrome Associated morphology Congenital anomaly false Inferred relationship Some
18q partial monosomy syndrome Occurrence Congenital true Inferred relationship Some 2
18q partial monosomy syndrome Occurrence Congenital true Inferred relationship Some 1
18q partial monosomy syndrome Finding site Chromosome pair 18 true Inferred relationship Some 1
18q partial monosomy syndrome Is a Deletion of part of autosome false Inferred relationship Some
18q partial monosomy syndrome Associated morphology Deletion of long arm true Inferred relationship Some 1
18q partial monosomy syndrome Associated morphology Partial monosomy true Inferred relationship Some 2
18q partial monosomy syndrome Finding site Chromosome pair 18 true Inferred relationship Some 2
18q partial monosomy syndrome Is a Deletion of part of chromosome 18 false Inferred relationship Some
18q partial monosomy syndrome Associated morphology Monosomy false Inferred relationship Some
18q partial monosomy syndrome Finding site Chromosome pair 18 false Inferred relationship Some 1
18q partial monosomy syndrome Occurrence Congenital false Inferred relationship Some
18q partial monosomy syndrome Associated morphology Deletion of long arm false Inferred relationship Some
18q partial monosomy syndrome Finding site Sex chromosome false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Proximal deletion of long arm of chromosome 18 Is a True 18q partial monosomy syndrome Inferred relationship Some
Proximal chromosome 18q deletion syndrome Is a True 18q partial monosomy syndrome Inferred relationship Some
Distal chromosome 18q deletion syndrome Is a True 18q partial monosomy syndrome Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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