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

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

61093012 16q partial monosomy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character case insensitive (core metadata concept) SNOMED CT core

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

768380014 16q partial monosomy syndrome (disorder) en Fully specified name Active Only initial character 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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
16q partial monosomy syndrome	Is a	Deletion of part of autosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
16q partial monosomy syndrome	Is a	Anomaly of chromosome pair 16	false	Inferred relationship	Existential restriction modifier (core metadata concept)
16q partial monosomy syndrome	Finding site	Chromosome pair 16 (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
16q partial monosomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
16q partial monosomy syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
16q partial monosomy syndrome	Associated morphology	Deletion of long arm	false	Inferred relationship	Existential restriction modifier (core metadata concept)
16q partial monosomy syndrome	Associated morphology	Monosomy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
16q partial monosomy syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
16q partial monosomy syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
16q partial monosomy syndrome	Finding site	Chromosome pair 16 (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
16q partial monosomy syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
16q partial monosomy syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
16q partial monosomy syndrome	Finding site	Chromosome pair 16 (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
16q partial monosomy syndrome	Finding site	Chromosome pair 16 (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
16q partial monosomy syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
16q partial monosomy syndrome	Associated morphology	Deletion of long arm	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
16q partial monosomy syndrome	Is a	Deletion of part of chromosome 16 (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.	Is a	False	16q partial monosomy syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
16q24.1 microdeletion syndrome (disorder)	Is a	False	16q partial monosomy syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal deletion of long arm of chromosome 16	Is a	False	16q partial monosomy syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
Proximal deletion of long arm of chromosome 16 (disorder)	Is a	False	16q partial monosomy syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

REPLACED BY association reference set (foundation metadata concept)