764624003: Mosaic trisomy 20 syndrome (disorder)

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

Status: current, Primitive. Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3654237016	Mosaic trisomy chromosome 20	en	Synonym	Active	Case insensitive	SNOMED CT core
3654238014	Mosaic trisomy 20 syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3654239018	Trisomy 20 mosaicism	en	Synonym	Active	Case insensitive	SNOMED CT core
3654240016	Mosaic trisomy 20 syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3777530010	A rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype. Principal characteristics are spinal abnormalities (stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (horseshoe kidneys) have also been reported.	en	Definition	Active	Case sensitive	SNOMED CT core
3777531014	A rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype. Principal characteristics are spinal abnormalities (stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (linear and whorled naevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (horseshoe kidneys) 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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