111311004: 20p partial trisomy 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\20p partial trisomy syndrome
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 20\20p partial trisomy syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 20\Partial trisomy of chromosome 20\20p partial trisomy syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 20\20p partial trisomy syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\20p partial trisomy syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 20\Partial trisomy of chromosome 20\20p partial trisomy syndrome
• \Congenital disease\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 20\20p partial trisomy syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\20p partial trisomy syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
178543013	20p partial trisomy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
187734011	Trisomy 20p syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
630209019	20p partial trisomy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4555934018	Disorder resulting from duplication of all or part of the short arm of chromosome 20 with characteristics of normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. The chromosomal anomaly may occur de novo, but most reported cases arise from a reciprocal translocation or, as described in a few cases, a parental inversion.	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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