449818005: 22q11 partial monosomy syndrome (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2912594010 22q11 partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2912607016 22q11 partial monosomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2912736012 Chromosome 22q11 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3567461000052115 partiellt monosomi 22q11-syndrom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
partiellt monosomi 22q11-syndrom	Associated morphology	kongenital anomali	false	Inferred relationship	Some
partiellt monosomi 22q11-syndrom	Is a	Deletion of part of autosome	false	Inferred relationship	Some
partiellt monosomi 22q11-syndrom	Occurrence	Congenital	false	Inferred relationship	Some
partiellt monosomi 22q11-syndrom	Occurrence	Congenital	false	Inferred relationship	Some	1
partiellt monosomi 22q11-syndrom	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
partiellt monosomi 22q11-syndrom	Finding site	Chromosome	false	Inferred relationship	Some	1
partiellt monosomi 22q11-syndrom	Associated morphology	Partial monosomy (morphologic abnormality)	false	Inferred relationship	Some	1
partiellt monosomi 22q11-syndrom	Finding site	Long arm of chromosome	false	Inferred relationship	Some	1
partiellt monosomi 22q11-syndrom	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
partiellt monosomi 22q11-syndrom	Associated morphology	Partial monosomy (morphologic abnormality)	false	Inferred relationship	Some	2
partiellt monosomi 22q11-syndrom	Is a	Multiple system malformation syndrome	false	Inferred relationship	Some
partiellt monosomi 22q11-syndrom	Is a	22q partial monosomy (disorder)	false	Inferred relationship	Some
partiellt monosomi 22q11-syndrom	Finding site	Chromosome pair 22	false	Inferred relationship	Some	2
partiellt monosomi 22q11-syndrom	Occurrence	Congenital	false	Inferred relationship	Some	2
partiellt monosomi 22q11-syndrom	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)