767263007: 22q11.2 deletion syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\22q11.2 deletion syndrome (disorder)

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\22q11.2 deletion syndrome (disorder)

\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 22 (disorder)\22q partial monosomy (disorder)\22q11.2 deletion syndrome (disorder)

\Anomaly of chromosome pair 22\Deletion of part of chromosome 22 (disorder)\22q partial monosomy (disorder)\22q11.2 deletion syndrome (disorder)

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 22 (disorder)\22q partial monosomy (disorder)\22q11.2 deletion syndrome (disorder)

\Anomaly of chromosome pair 22\Deletion of part of chromosome 22 (disorder)\22q partial monosomy (disorder)\22q11.2 deletion syndrome (disorder)

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\22q11.2 deletion syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3670117015 Velocardiofacial syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3670118013 22q11.2 deletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3670119017 Sedlackova syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3670120011 Conotruncal anomaly face syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3670121010 Cayler cardiofacial syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3670122015 DiGeorge syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3670123013 Shprintzen syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3670124019 22q11.2 deletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3670125018 DiGeorge sequence en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3670126017 CATCH 22 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3670127014 Microdeletion 22q11.2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3670128016 Takao syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5418167019 A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5418168012 A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterised by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Family history of velocardiofacial syndrome (situation)	Associated finding	True	22q11.2 deletion syndrome (disorder)	Inferred relationship	Some	1

Reference Sets

Component annotation with string value reference set (foundation metadata concept)