764500002: Distal trisomy 20q syndrome (disorder)

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

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 20 (disorder)\20q partial trisomy (disorder)\Distal trisomy 20q syndrome (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 20 (disorder)\20q partial trisomy (disorder)\Distal trisomy 20q syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 20\Partial trisomy of chromosome 20 (disorder)\20q partial trisomy (disorder)\Distal trisomy 20q syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 20 (disorder)\20q partial trisomy (disorder)\Distal trisomy 20q syndrome (disorder)

\Congenital disease (disorder)\Congenital malformation\Distal trisomy 20q syndrome (disorder)
\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 20\Partial trisomy of chromosome 20 (disorder)\20q partial trisomy (disorder)\Distal trisomy 20q syndrome (disorder)
\Congenital disease (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 20 (disorder)\20q partial trisomy (disorder)\Distal trisomy 20q syndrome (disorder)

\Developmental disorder\Congenital malformation\Distal trisomy 20q syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3650169014 Distal trisomy 20q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3650170010 Distal duplication 20q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3650172019 Telomeric duplication 20q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4555945015 Distal trisomy 20q syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4555946019 Distal trisomy 20q syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3649874017 A rare chromosomal anomaly syndrome resulting from partial trisomy of the long arm of chromosome 20 with high phenotypic variability. The disease has characteristics of neurodevelopmental delay, cardiac malformations (ventricular septal defect, coarctation of aorta) and facial dysmorphism (large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

907911000172115 duplication distale 20q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

915601000172117 trisomie distale 20q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

893251000172113 distale duplicatie 20q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

984901000172114 distale trisomie 20q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal trisomy 20q syndrome (disorder)	Is a	20q partial trisomy (disorder)	true	Inferred relationship	Some
Distal trisomy 20q syndrome (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Distal trisomy 20q syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Distal trisomy 20q syndrome (disorder)	Finding site	Chromosome pair 20	true	Inferred relationship	Some	1
Distal trisomy 20q syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Distal trisomy 20q syndrome (disorder)	Is a	Congenital malformation	true	Inferred relationship	Some
Distal trisomy 20q syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Distal trisomy 20q syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Distal trisomy 20q syndrome (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
Distal trisomy 20q syndrome (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3650169014	Distal trisomy 20q	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3650170010	Distal duplication 20q	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3650172019	Telomeric duplication 20q	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4555945015	Distal trisomy 20q syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4555946019	Distal trisomy 20q syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3649874017	A rare chromosomal anomaly syndrome resulting from partial trisomy of the long arm of chromosome 20 with high phenotypic variability. The disease has characteristics of neurodevelopmental delay, cardiac malformations (ventricular septal defect, coarctation of aorta) and facial dysmorphism (large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
907911000172115	duplication distale 20q	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
915601000172117	trisomie distale 20q	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
893251000172113	distale duplicatie 20q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
984901000172114	distale trisomie 20q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)