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699310000: 22q13.3 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
2983744011 Phelan-McDermid syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
2983765017 22q13.3 deletion syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
2983769011 Monosomy 22q13 en Synonym Active Entire term case insensitive SNOMED CT core module
2983770012 22q13.3 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
22q13.3 deletion syndrome Is a Multisystem disorder false Inferred relationship Existential restriction modifier
22q13.3 deletion syndrome Is a Anomaly of chromosome pair 22 false Inferred relationship Existential restriction modifier
22q13.3 deletion syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier
22q13.3 deletion syndrome Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier
22q13.3 deletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
22q13.3 deletion syndrome Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Existential restriction modifier 1
22q13.3 deletion syndrome Finding site Chromosome pair 22 false Inferred relationship Existential restriction modifier 1
22q13.3 deletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
22q13.3 deletion syndrome Associated morphology Partial monosomy true Inferred relationship Existential restriction modifier 2
22q13.3 deletion syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
22q13.3 deletion syndrome Finding site Long arm of chromosome true Inferred relationship Existential restriction modifier 1
22q13.3 deletion syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
22q13.3 deletion syndrome Finding site Chromosome pair 22 true Inferred relationship Existential restriction modifier 2
22q13.3 deletion syndrome Is a Congenital malformation true Inferred relationship Existential restriction modifier
22q13.3 deletion syndrome Is a 22q partial monosomy true Inferred relationship Existential restriction modifier
22q13.3 deletion syndrome Associated morphology Partial monosomy true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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