767263007: 22q11.2 deletion syndrome (disorder)

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

\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)

\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\22q11.2 deletion syndrome (disorder)
\Congenital disease (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)
\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\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

3670131015 A chromosomal anomaly that causes a congenital malformation disorder with common features that includes cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. The disease has a variable clinical phenotype that ranges from mild to severe. The broad spectrum of clinical phenotypes that the syndrome encompasses was previously divided into distinct syndromes (for example DiGeorge syndrome, velocardiofacial syndrome, cardiofacial syndrome) but are now known to be identical and are referred to as 22q11.2 deletion sydrome. In most cases, the syndrome is due to a 3 million base pair (Mb) deletion on the chromosomal region 22q11.2 that is flanked by low copy number repeats. The deletion is due to a non-allelic meiotic recombination during spermatogenesis or oogenesis. The variable expression of the 22q11.2 phenotype is thought to be due to genetic modifiers on either the other 22q11.2 allele or on other chromosomes. The deletion arises de novo in 90% of the cases. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

926841000172118 syndrome de délétion 22q11.2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

885441000172114 22q11.2 deletiesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Belgian subset for medical problems in patient health records

Belgian subset for neonatology in patient health records

Back to Start

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
3670131015	A chromosomal anomaly that causes a congenital malformation disorder with common features that includes cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. The disease has a variable clinical phenotype that ranges from mild to severe. The broad spectrum of clinical phenotypes that the syndrome encompasses was previously divided into distinct syndromes (for example DiGeorge syndrome, velocardiofacial syndrome, cardiofacial syndrome) but are now known to be identical and are referred to as 22q11.2 deletion sydrome. In most cases, the syndrome is due to a 3 million base pair (Mb) deletion on the chromosomal region 22q11.2 that is flanked by low copy number repeats. The deletion is due to a non-allelic meiotic recombination during spermatogenesis or oogenesis. The variable expression of the 22q11.2 phenotype is thought to be due to genetic modifiers on either the other 22q11.2 allele or on other chromosomes. The deletion arises de novo in 90% of the cases.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
926841000172118	syndrome de délétion 22q11.2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
885441000172114	22q11.2 deletiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)