764463001: Mosaic trisomy 12 syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 12\Mosaic trisomy 12
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 12\Mosaic trisomy 12
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 12\Trisomy 12\Mosaic trisomy 12
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 12\Mosaic trisomy 12
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Mosaic trisomy 12
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 12\Trisomy 12\Mosaic trisomy 12
• \Congenital disease\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 12\Mosaic trisomy 12
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Mosaic trisomy 12

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3649955012	Mosaic trisomy chromosome 12	en	Synonym	Active	Case insensitive	SNOMED CT core
3649956013	Trisomy 12 mosaicism	en	Synonym	Active	Case insensitive	SNOMED CT core
3649957016	Mosaic trisomy 12 syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3649958014	Mosaic trisomy 12 syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3649959018	Mosaic trisomy 12	en	Synonym	Active	Case insensitive	SNOMED CT core
3649960011	A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are developmental or growth delay, short stature, craniofacial dysmorphism (turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry and intellectual disability 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

Description inactivation indicator reference set

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