764500002: Distal trisomy 20q syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 20\20q partial trisomy\Distal trisomy 20q syndrome
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 20\20q partial trisomy\Distal trisomy 20q syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 20\Partial trisomy of chromosome 20\20q partial trisomy\Distal trisomy 20q syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 20\20q partial trisomy\Distal trisomy 20q syndrome
• \Congenital disease\Congenital anomaly\Distal trisomy 20q syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 20\Partial trisomy of chromosome 20\20q partial trisomy\Distal trisomy 20q syndrome
• \Congenital disease\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 20\20q partial trisomy\Distal trisomy 20q syndrome
• \Developmental disorder\Congenital anomaly\Distal trisomy 20q syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3650169014	Distal trisomy 20q	en	Synonym	Active	Case insensitive	SNOMED CT core
3650170010	Distal duplication 20q	en	Synonym	Active	Case insensitive	SNOMED CT core
3650172019	Telomeric duplication 20q	en	Synonym	Active	Case insensitive	SNOMED CT core
4555945015	Distal trisomy 20q syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4555946019	Distal trisomy 20q syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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