74345006: Congenital disorder due to abnormality of chromosome number OR structure (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: IPS terminology module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module

123461015 Chromosomopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

123462010 Chromosomal abnormality syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

123463017 Chromosomal hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

123470017 Chromosomal imbalance syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

123471018 Anomaly of chromosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

200444011 Congenital chromosomal disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

814834012 Congenital disorder due to abnormality of chromosome number OR structure (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) IPS terminology module (core metadata concept)

2770449010 Congenital disorder due to abnormality of chromosome number OR structure en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) IPS terminology module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital disorder due to abnormality of chromosome number OR structure (disorder)	Is a	Congenital disease	true	Inferred relationship	Some
Congenital disorder due to abnormality of chromosome number OR structure (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital disorder due to abnormality of chromosome number OR structure (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital disorder due to abnormality of chromosome number OR structure (disorder)	Finding site	Chromosome structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Trisomy and partial trisomy of autosome	Is a	True	Congenital disorder due to abnormality of chromosome number OR structure (disorder)	Inferred relationship	Some
Sex chromosome abnormality - female phenotype	Is a	True	Congenital disorder due to abnormality of chromosome number OR structure (disorder)	Inferred relationship	Some

Reference Sets

International Patient Summary