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699307007: Chromosome 16p11.2 deletion syndrome (disorder)

Status: current, Primitive. Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2983646018 Chromosome 16p11.2 deletion syndrome en Synonym Active Case insensitive SNOMED CT core
2983663019 16p11.2 deletion syndrome en Synonym Active Case insensitive SNOMED CT core
2983684012 Chromosome 16p11.2 deletion syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chromosome 16p11.2 deletion syndrome Is a Congenital anomaly true Inferred relationship Some
Chromosome 16p11.2 deletion syndrome Is a Deletion of part of short arm of chromosome 16 true Inferred relationship Some
Chromosome 16p11.2 deletion syndrome Finding site Short arm of chromosome true Inferred relationship Some 1
Chromosome 16p11.2 deletion syndrome Associated morphology Partial monosomy true Inferred relationship Some 1
Chromosome 16p11.2 deletion syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Chromosome 16p11.2 deletion syndrome Occurrence Congenital true Inferred relationship Some 2
Chromosome 16p11.2 deletion syndrome Finding site Chromosome pair 16 true Inferred relationship Some 2
Chromosome 16p11.2 deletion syndrome Associated morphology Partial monosomy true Inferred relationship Some 2
Chromosome 16p11.2 deletion syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Chromosome 16p11.2 deletion syndrome Is a Anomaly of chromosome pair 16 false Inferred relationship Some
Chromosome 16p11.2 deletion syndrome Occurrence Congenital false Inferred relationship Some
Chromosome 16p11.2 deletion syndrome Associated morphology Congenital anomaly false Inferred relationship Some
Chromosome 16p11.2 deletion syndrome Occurrence Congenital true Inferred relationship Some 1
Chromosome 16p11.2 deletion syndrome Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Some 1
Chromosome 16p11.2 deletion syndrome Finding site Chromosome pair 16 false Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Proximal 16p11.2 microdeletion syndrome Is a False Chromosome 16p11.2 deletion syndrome Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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