764622004: Mosaic trisomy 17 syndrome (disorder)

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

Status: current, Defined. 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	Case insensitive	SNOMED CT core
3654228016	Trisomy 17 mosaicism	en	Synonym	Active	Case insensitive	SNOMED CT core
3654229012	Mosaic trisomy chromosome 17	en	Synonym	Active	Case insensitive	SNOMED CT core
3654230019	Mosaic trisomy 17 syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3654231015	A rare chromosomal anomaly syndrome with a highly variable clinical presentation. The disorder has characteristics of growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations 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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