43420005: syndroom van partiële monosomie 9q (aandoening)

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

\Disorder of foetus and/or newborn\Congenital disease (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

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

\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

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

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

7877191000146116 partiële monosomie 9q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8031591000146114 syndroom van partiële monosomie 9q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8031601000146116 partiële monosomie van lange arm van chromosoom 9 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8031611000146119 syndroom van partiële monosomie 9q (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
9q partial monosomy syndrome	Is a	Anomaly of chromosome pair 9	false	Inferred relationship	Some
9q partial monosomy syndrome	Is a	Deletion of part of autosome	false	Inferred relationship	Some
9q partial monosomy syndrome	Finding site	Chromosome pair 9	false	Inferred relationship	Some	1
9q partial monosomy syndrome	Associated morphology	Monosomy	false	Inferred relationship	Some
9q partial monosomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
9q partial monosomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
9q partial monosomy syndrome	Associated morphology	Deletion of long arm	false	Inferred relationship	Some
9q partial monosomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
9q partial monosomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
9q partial monosomy syndrome	Finding site	Chromosome pair 9	false	Inferred relationship	Some	1
9q partial monosomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
9q partial monosomy syndrome	Finding site	Chromosome pair 9	true	Inferred relationship	Some	1
9q partial monosomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
9q partial monosomy syndrome	Finding site	Chromosome pair 9	true	Inferred relationship	Some	2
9q partial monosomy syndrome	Associated morphology	Deletion of long arm	true	Inferred relationship	Some	1
9q partial monosomy syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
9q partial monosomy syndrome	Is a	Deletion of part of chromosome 9 (disorder)	true	Inferred relationship	Some

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

This concept is not in any reference sets