FHIR © HL7.org | Server Home | FHIR Server FHIR Server 4.0.1 | FHIR Version n/a User: [n/a]

19550003: syndroom van partiële monosomie 22q (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 22 (disorder)\22q partial monosomy (disorder)

\Anomaly of chromosome pair 22\Deletion of part of chromosome 22 (disorder)\22q partial monosomy (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 22 (disorder)\22q partial monosomy (disorder)

\Anomaly of chromosome pair 22\Deletion of part of chromosome 22 (disorder)\22q partial monosomy (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
22q partial monosomy (disorder)	Is a	Deletion of part of autosome	false	Inferred relationship	Some
22q partial monosomy (disorder)	Is a	Anomaly of chromosome pair 22	false	Inferred relationship	Some
22q partial monosomy (disorder)	Finding site	Sex chromosome	false	Inferred relationship	Some
22q partial monosomy (disorder)	Associated morphology	Deletion of long arm	false	Inferred relationship	Some
22q partial monosomy (disorder)	Finding site	Chromosome pair 22	false	Inferred relationship	Some	1
22q partial monosomy (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
22q partial monosomy (disorder)	Associated morphology	Monosomy	false	Inferred relationship	Some
22q partial monosomy (disorder)	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
22q partial monosomy (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
22q partial monosomy (disorder)	Finding site	Chromosome pair 22	false	Inferred relationship	Some	1
22q partial monosomy (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
22q partial monosomy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
22q partial monosomy (disorder)	Finding site	Chromosome pair 22	false	Inferred relationship	Some	1
22q partial monosomy (disorder)	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	1
22q partial monosomy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
22q partial monosomy (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
22q partial monosomy (disorder)	Finding site	Chromosome pair 22	true	Inferred relationship	Some	2
22q partial monosomy (disorder)	Is a	Deletion of part of chromosome 22 (disorder)	true	Inferred relationship	Some
22q partial monosomy (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
22q partial monosomy (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Distal 22q11.2 microdeletion syndrome (disorder)	Is a	True	22q partial monosomy (disorder)	Inferred relationship	Some
22q11.2 deletion syndrome (disorder)	Is a	True	22q partial monosomy (disorder)	Inferred relationship	Some
22q13.3 deletion syndrome	Is a	True	22q partial monosomy (disorder)	Inferred relationship	Some
syndroom van partiële monosomie 22q11 (aandoening)	Is a	False	22q partial monosomy (disorder)	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
32915013	22q partial monosomy syndrome	en	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
747793012	22q partial monosomy syndrome (disorder)	en	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
4555248013	22q partial monosomy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4555249017	22q partial monosomy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
8026431000146115	partiële monosomie 22q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8026441000146111	partiële monosomie van lange arm van chromosoom 22	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8026451000146114	syndroom van partiële monosomie 22q (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8026461000146112	syndroom van partiële monosomie 22q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)