43420005: 9q partial monosomy syndrome (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)\Deletion of part of autosome\Deletion of part of chromosome 9 (disorder)\9q partial monosomy syndrome (disorder)

\Anomaly of chromosome pair 9\Deletion of part of chromosome 9 (disorder)\9q partial monosomy syndrome (disorder)

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 9 (disorder)\9q partial monosomy syndrome (disorder)

\Anomaly of chromosome pair 9\Deletion of part of chromosome 9 (disorder)\9q partial monosomy syndrome (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

72429010 9q partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

780430010 9q partial monosomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

72429010 9q partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

72429010 9q partial monosomy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

72429010 9q partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

780430010 9q partial monosomy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

780430010 9q partial monosomy syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

780430010 9q partial monosomy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

780430010 9q partial monosomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4531521000241114 monosomie partielle 9q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4531521000241114 monosomie partielle 9q 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
9q partial monosomy syndrome (disorder)	Is a	Anomaly of chromosome pair 9	false	Inferred relationship	Existential restriction modifier (core metadata concept)
9q partial monosomy syndrome (disorder)	Is a	Deletion of part of autosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
9q partial monosomy syndrome (disorder)	Finding site	Chromosome pair 9	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
9q partial monosomy syndrome (disorder)	Associated morphology	Monosomy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
9q partial monosomy syndrome (disorder)	Finding site	Sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
9q partial monosomy syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
9q partial monosomy syndrome (disorder)	Associated morphology	Deletion of long arm	false	Inferred relationship	Existential restriction modifier (core metadata concept)
9q partial monosomy syndrome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
9q partial monosomy syndrome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
9q partial monosomy syndrome (disorder)	Finding site	Chromosome pair 9	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
9q partial monosomy syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
9q partial monosomy syndrome (disorder)	Finding site	Chromosome pair 9	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
9q partial monosomy syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
9q partial monosomy syndrome (disorder)	Finding site	Chromosome pair 9	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
9q partial monosomy syndrome (disorder)	Associated morphology	Deletion of long arm	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
9q partial monosomy syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
9q partial monosomy syndrome (disorder)	Is a	Deletion of part of chromosome 9 (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Monosomy 9q22.3 syndrome (disorder)	Is a	True	9q partial monosomy syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
9q22.3 deletion syndrome	Is a	False	9q partial monosomy syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
9q31.1q31.3 microdeletion syndrome	Is a	True	9q partial monosomy syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
9q34 deletion syndrome (disorder)	Is a	True	9q partial monosomy syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal deletion of long arm of chromosome 9	Is a	True	9q partial monosomy syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Medial deletion of long arm of chromosome 9 (disorder)	Is a	True	9q partial monosomy syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Proximal deletion of long arm of chromosome 9	Is a	True	9q partial monosomy syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
9q33.3q34.11 microdeletion syndrome (disorder)	Is a	True	9q partial monosomy syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
9q21.13 microdeletion syndrome	Is a	True	9q partial monosomy syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets