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767263007: 22q11.2 deletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3670117015 Velocardiofacial syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3670118013 22q11.2 deletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
3670119017 Sedlackova syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3670120011 Conotruncal anomaly face syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3670121010 Cayler cardiofacial syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3670122015 DiGeorge syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3670123013 Shprintzen syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3670124019 22q11.2 deletion syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module
3670125018 DiGeorge sequence en Synonym Active Entire term case sensitive SNOMED CT core module
3670126017 CATCH 22 en Synonym Active Entire term case sensitive SNOMED CT core module
3670127014 Microdeletion 22q11.2 en Synonym Active Only initial character case insensitive SNOMED CT core module
3670128016 Takao syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
22q11.2 deletion syndrome Finding site Chromosome pair 22 true Inferred relationship Existential restriction modifier 2
22q11.2 deletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
22q11.2 deletion syndrome Associated morphology Deletion 22q11.2 false Inferred relationship Existential restriction modifier 1
22q11.2 deletion syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 3
22q11.2 deletion syndrome Finding site Chromosome pair 22 false Inferred relationship Existential restriction modifier 1
22q11.2 deletion syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier
22q11.2 deletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
22q11.2 deletion syndrome Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier 2
22q11.2 deletion syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 3
22q11.2 deletion syndrome Is a 22q partial monosomy true Inferred relationship Existential restriction modifier
22q11.2 deletion syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
22q11.2 deletion syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
22q11.2 deletion syndrome Finding site Long arm of chromosome true Inferred relationship Existential restriction modifier 1
22q11.2 deletion syndrome Associated morphology Partial monosomy true Inferred relationship Existential restriction modifier 2
22q11.2 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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