70452003: congenitale anomalie van chromosomenpaar 22 (aandoening)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 22

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 22

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

117038011 Anomaly of chromosome pair 22 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

810510017 Anomaly of chromosome pair 22 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6361471000146114 congenitale anomalie van chromosomenpaar 22 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6361481000146111 congenitale anomalie van chromosomenpaar 22 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6361491000146113 aangeboren afwijking van chromosomenpaar 22 nl Synonym (core metadata concept) 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
Anomaly of chromosome pair 22	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 22	Finding site	Chromosome pair 22	false	Inferred relationship	Some	1
Anomaly of chromosome pair 22	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 22	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 22	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 22	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 22	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Anomaly of chromosome pair 22	Finding site	Chromosome pair 22	false	Inferred relationship	Some	1
Anomaly of chromosome pair 22	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
Anomaly of chromosome pair 22	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 22	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome pair 22	Finding site	Chromosome pair 22	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ring chromosome 22 syndrome	Is a	True	Anomaly of chromosome pair 22	Inferred relationship	Some
22q partial monosomy (disorder)	Is a	False	Anomaly of chromosome pair 22	Inferred relationship	Some
Cat eye syndrome	Is a	False	Anomaly of chromosome pair 22	Inferred relationship	Some
22q partial trisomy (disorder)	Is a	False	Anomaly of chromosome pair 22	Inferred relationship	Some
Complete trisomy 22 syndrome	Is a	False	Anomaly of chromosome pair 22	Inferred relationship	Some
22q13.3 deletion syndrome	Is a	False	Anomaly of chromosome pair 22	Inferred relationship	Some
22q11.2 duplication syndrome (disorder)	Is a	False	Anomaly of chromosome pair 22	Inferred relationship	Some
Deletion of part of chromosome 22 (disorder)	Is a	True	Anomaly of chromosome pair 22	Inferred relationship	Some
Partial trisomy of chromosome 22	Is a	False	Anomaly of chromosome pair 22	Inferred relationship	Some
Trisomy 22	Is a	True	Anomaly of chromosome pair 22	Inferred relationship	Some
Maternal uniparental disomy of chromosome 22 (disorder)	Is a	True	Anomaly of chromosome pair 22	Inferred relationship	Some
Monosomy 22 syndrome (disorder)	Is a	True	Anomaly of chromosome pair 22	Inferred relationship	Some

Reference Sets