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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2014. Module: SNOMED CT core module

Descriptions:

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

0 descendants.

Expanded Value Set

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

This concept is not in any reference sets

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