764622004: Mosaic trisomy 17 syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\...
• \Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Mosaic trisomy 17 syndrome (disorder)
• \Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Mosaic trisomy 17 syndrome (disorder)
• \Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Mosaic trisomy 17 syndrome (disorder)
• \Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Mosaic trisomy 17 syndrome (disorder)
• \Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Mosaic trisomy 17 syndrome (disorder)
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Mosaic trisomy 17 syndrome (disorder)
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Mosaic trisomy 17 syndrome (disorder)
• \Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Mosaic trisomy 17 syndrome (disorder)

Status: current, 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
3654227014	Mosaic trisomy 17 syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3654228016	Trisomy 17 mosaicism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3654229012	Mosaic trisomy chromosome 17	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3654230019	Mosaic trisomy 17 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404335010	Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404336011	Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterised by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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