36608002: 16q 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

61093012 16q partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

768380014 16q partial monosomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1136911000172113 monosomie partielle 16q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

1135061000172116 partiële monosomie 16q 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 16q	Is a	Deletion of part of autosome	false	Inferred relationship	Some
monosomie partielle 16q	Is a	Anomaly of chromosome pair 16	false	Inferred relationship	Some
monosomie partielle 16q	Finding site	Chromosome pair 16	false	Inferred relationship	Some	1
monosomie partielle 16q	Finding site	Sex chromosome	false	Inferred relationship	Some
monosomie partielle 16q	Occurrence	Congenital	false	Inferred relationship	Some
monosomie partielle 16q	Associated morphology	Deletion of long arm	false	Inferred relationship	Some
monosomie partielle 16q	Associated morphology	Monosomy	false	Inferred relationship	Some
monosomie partielle 16q	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
monosomie partielle 16q	Associated morphology	Congenital anomaly	false	Inferred relationship	Some
monosomie partielle 16q	Finding site	Chromosome pair 16	false	Inferred relationship	Some	1
monosomie partielle 16q	Occurrence	Congenital	false	Inferred relationship	Some	2
monosomie partielle 16q	Occurrence	Congenital	false	Inferred relationship	Some	1
monosomie partielle 16q	Finding site	Chromosome pair 16	false	Inferred relationship	Some	1
monosomie partielle 16q	Finding site	Chromosome pair 16	false	Inferred relationship	Some	2
monosomie partielle 16q	Associated morphology	Partial monosomy (morphologic abnormality)	false	Inferred relationship	Some	1
monosomie partielle 16q	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	2
monosomie partielle 16q	Is a	Deletion of part of chromosome 16 (disorder)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
16q24.3 microdeletion syndrome (disorder)	Is a	False	monosomie partielle 16q	Inferred relationship	Some
16q24.1 microdeletion syndrome (disorder)	Is a	False	monosomie partielle 16q	Inferred relationship	Some
Distal deletion of long arm of chromosome 16	Is a	False	monosomie partielle 16q	Inferred relationship	Some
Proximal deletion of long arm of chromosome 16 (disorder)	Is a	False	monosomie partielle 16q	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)