764461004: Mosaic trisomy 10 syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 10\Mosaic trisomy 10
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 10\Mosaic trisomy 10
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 10\Trisomy 10\Mosaic trisomy 10
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 10\Mosaic trisomy 10
• \Congenital disease\Congenital anomaly\Mosaic trisomy 10
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 10\Trisomy 10\Mosaic trisomy 10
• \Congenital disease\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 10\Mosaic trisomy 10
• \Developmental disorder\Congenital anomaly\Mosaic trisomy 10

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3649942011	Mosaic trisomy 10 syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3649943018	Mosaic trisomy 10	en	Synonym	Active	Case insensitive	SNOMED CT core
3649944012	Mosaic trisomy 10 syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3649945013	Mosaic trisomy chromosome 10	en	Synonym	Active	Case insensitive	SNOMED CT core
3649946014	Trisomy 10 mosaicism	en	Synonym	Active	Case insensitive	SNOMED CT core
3649954011	A rare chromosomal anomaly syndrome with a highly variable phenotype. The principle characteristics are growth delay, craniofacial dysmorphism (including prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (radial ray defects, scoliosis) malformations. Death usually occurs neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, facial clefts and anal atresia.	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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