764623009: Mosaic trisomy 2 syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Mosaic trisomy 2 syndrome
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Mosaic trisomy 2 syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Mosaic trisomy 2 syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Mosaic trisomy 2 syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Mosaic trisomy 2 syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Mosaic trisomy 2 syndrome
• \Congenital disease\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Mosaic trisomy 2 syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Mosaic trisomy 2 syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3654232010	Trisomy 2 mosaicism	en	Synonym	Active	Case insensitive	SNOMED CT core
3654233017	Mosaic trisomy chromosome 2	en	Synonym	Active	Case insensitive	SNOMED CT core
3654234011	Mosaic trisomy 2 syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3654235012	Mosaic trisomy 2 syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3654236013	A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) 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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