890124000: 5q22.2 deletion syndrome (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\...

\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\5q22.2 deletion syndrome

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

\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 5 (disorder)\Deletion of part of long arm of chromosome 5 (disorder)\5q22.2 deletion syndrome

\Anomaly of chromosome pair 5 (disorder)\Deletion of part of chromosome 5 (disorder)\Deletion of part of long arm of chromosome 5 (disorder)\5q22.2 deletion syndrome

\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 5 (disorder)\Deletion of part of long arm of chromosome 5 (disorder)\5q22.2 deletion syndrome

\Anomaly of chromosome pair 5 (disorder)\Deletion of part of chromosome 5 (disorder)\Deletion of part of long arm of chromosome 5 (disorder)\5q22.2 deletion syndrome

\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\5q22.2 deletion syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4011213019 5q22.2 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4011214013 5q22.2 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4011213019 5q22.2 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4011214013 5q22.2 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
5q22.2 deletion syndrome	Is a	Deletion of part of long arm of chromosome 5 (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
5q22.2 deletion syndrome	Is a	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
5q22.2 deletion syndrome	Finding site	Chromosome pair 5	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
5q22.2 deletion syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
5q22.2 deletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
5q22.2 deletion syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
5q22.2 deletion syndrome	Associated morphology	Deletion of long arm	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
5q22.2 deletion syndrome	Finding site	Chromosome pair 5	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
5q22.2 deletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
5q22.2 deletion syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
5q22.2 deletion syndrome	Finding site	Long arm of chromosome (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
5q22.2 deletion syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
5q22.2 deletion syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder)	Due to	True	5q22.2 deletion syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)	2

This concept is not in any reference sets