205627002: Monosomy and deletion from autosome (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

315358017 Monosomy and deletion from autosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

315359013 Monosomies and deletions from the autosomes en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

591022012 Monosomy and deletion from autosome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

315358017 Monosomy and deletion from autosome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

315358017 Monosomy and deletion from autosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

315359013 Monosomies and deletions from the autosomes en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

315359013 Monosomies and deletions from the autosomes en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

591022012 Monosomy and deletion from autosome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

591022012 Monosomy and deletion from autosome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4885841000241111 monosomie et délétion de l'autosome fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4885841000241111 monosomie et délétion de l'autosome fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Monosomy and deletion from autosome (disorder)	Is a	Congenital chromosomal disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Monosomy and deletion from autosome (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Monosomy and deletion from autosome (disorder)	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Monosomy and deletion from autosome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Monosomy and deletion from autosome (disorder)	Finding site	Chromosome structure (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Monosomy and deletion from autosome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Monosomy and deletion from autosome (disorder)	Finding site	Chromosome structure (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Monosomy and deletion from autosome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Monosomy and deletion from autosome (disorder)	Is a	Anomaly of chromosome pair	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Monosomy and deletion from autosome (disorder)	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Monosomy and deletion from autosome (disorder)	Finding site	Chromosome	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Deletion seen only at prometaphase	Is a	True	Monosomy and deletion from autosome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Whole chromosome monosomy - meiotic nondisjunction (disorder)	Is a	True	Monosomy and deletion from autosome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Monosomy 21, mosaicism (disorder)	Is a	True	Monosomy and deletion from autosome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Deletion of part of autosome	Is a	True	Monosomy and deletion from autosome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Whole chromosome monosomy - mitotic nondisjunction mosaicism	Is a	True	Monosomy and deletion from autosome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Deletion with complex rearrangement	Is a	True	Monosomy and deletion from autosome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
9p partial monosomy syndrome	Is a	False	Monosomy and deletion from autosome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Complete monosomy 21 (disorder)	Is a	False	Monosomy and deletion from autosome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Antimongolism syndrome	Is a	False	Monosomy and deletion from autosome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal deletion - mosaicism (disorder)	Is a	True	Monosomy and deletion from autosome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
[X]Other deletions from the autosomes	Is a	False	Monosomy and deletion from autosome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal monosomy 1q syndrome (disorder)	Is a	False	Monosomy and deletion from autosome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Complete monosomy of autosome (disorder)	Is a	True	Monosomy and deletion from autosome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Monosomy 22 syndrome (disorder)	Is a	False	Monosomy and deletion from autosome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets