764500002: trisomie distale 20q (trouble)

• SNOMED CT Concept\constatation clinique\Disease\...
• \anomalie chromosomique\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\trisomie partielle du chromosome 20\20q partial trisomy (disorder)\Distal trisomy 20q syndrome (disorder)
• \anomalie chromosomique\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\trisomie partielle du chromosome 20\20q partial trisomy (disorder)\Distal trisomy 20q syndrome (disorder)
• \anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of chromosome pair 20\trisomie partielle du chromosome 20\20q partial trisomy (disorder)\Distal trisomy 20q syndrome (disorder)
• \anomalie chromosomique\maladie chromosomique congénitale\Trisomy and partial trisomy of autosome\trisomie partielle du chromosome 20\20q partial trisomy (disorder)\Distal trisomy 20q syndrome (disorder)
• \Congenital disease\Congenital malformation\Distal trisomy 20q syndrome (disorder)
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of chromosome pair 20\trisomie partielle du chromosome 20\20q partial trisomy (disorder)\Distal trisomy 20q syndrome (disorder)
• \Congenital disease\maladie chromosomique congénitale\Trisomy and partial trisomy of autosome\trisomie partielle du chromosome 20\20q partial trisomy (disorder)\Distal trisomy 20q syndrome (disorder)
• \trouble du développement\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
766901000241118	trisomie distale 20q (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
907911000172115	duplication distale 20q	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
915601000172117	trisomie distale 20q	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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