48082007: congenitale anomalie van chromosomenpaar 8 (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 8

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 8

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

80127019 Anomaly of chromosome pair 8 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
80128012 Anomaly of chromosome pair 8, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
785611019 Anomaly of chromosome pair 8 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6178141000146117 congenitale anomalie van chromosomenpaar 8 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6178151000146119 congenitale anomalie van chromosomenpaar 8 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6178161000146116 aangeboren afwijking van chromosomenpaar 8 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 8	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 8	Finding site	Chromosome pair 8	false	Inferred relationship	Some	1
Anomaly of chromosome pair 8	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 8	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 8	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 8	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 8	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Anomaly of chromosome pair 8	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
Anomaly of chromosome pair 8	Finding site	Chromosome pair 8	false	Inferred relationship	Some	1
Anomaly of chromosome pair 8	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 8	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome pair 8	Finding site	Chromosome pair 8	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
8q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 8	Inferred relationship	Some
8p partial monosomy syndrome	Is a	False	Anomaly of chromosome pair 8	Inferred relationship	Some
8q partial monosomy syndrome	Is a	False	Anomaly of chromosome pair 8	Inferred relationship	Some
Complete trisomy 8 syndrome	Is a	True	Anomaly of chromosome pair 8	Inferred relationship	Some
8p partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 8	Inferred relationship	Some
Ring chromosome 8 syndrome (disorder)	Is a	True	Anomaly of chromosome pair 8	Inferred relationship	Some
Mosaic trisomy 8 syndrome (disorder)	Is a	True	Anomaly of chromosome pair 8	Inferred relationship	Some
Recombinant chromosome 8 syndrome (disorder)	Is a	True	Anomaly of chromosome pair 8	Inferred relationship	Some
8p inverted duplication deletion syndrome (disorder)	Is a	True	Anomaly of chromosome pair 8	Inferred relationship	Some
Deletion of part of chromosome 8 (disorder)	Is a	True	Anomaly of chromosome pair 8	Inferred relationship	Some
Partial trisomy of chromosome 8	Is a	True	Anomaly of chromosome pair 8	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set