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
1201911000172113 monosomie partielle 22q11 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
1196241000172113 partiële monosomie 22q11 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
monosomie partielle 22q11	Associated morphology	Congenital anomaly	false	Inferred relationship	Some
monosomie partielle 22q11	Is a	Deletion of part of autosome	false	Inferred relationship	Some
monosomie partielle 22q11	Occurrence	Congenital	false	Inferred relationship	Some
monosomie partielle 22q11	Occurrence	Congenital	false	Inferred relationship	Some	1
monosomie partielle 22q11	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
monosomie partielle 22q11	Finding site	Chromosome	false	Inferred relationship	Some	1
monosomie partielle 22q11	Associated morphology	Partial monosomy (morphologic abnormality)	false	Inferred relationship	Some	1
monosomie partielle 22q11	Finding site	Long arm of chromosome	false	Inferred relationship	Some	1
monosomie partielle 22q11	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
monosomie partielle 22q11	Associated morphology	Partial monosomy (morphologic abnormality)	false	Inferred relationship	Some	2
monosomie partielle 22q11	Is a	Multiple system malformation syndrome	false	Inferred relationship	Some
monosomie partielle 22q11	Is a	22q partial monosomy (disorder)	false	Inferred relationship	Some
monosomie partielle 22q11	Finding site	Chromosome pair 22	false	Inferred relationship	Some	2
monosomie partielle 22q11	Occurrence	Congenital	false	Inferred relationship	Some	2
monosomie partielle 22q11	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)