764627005: Mosaic trisomy 3 syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Mosaic trisomy 3 syndrome
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Mosaic trisomy 3 syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 3\Mosaic trisomy 3 syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Mosaic trisomy 3 syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Mosaic trisomy 3 syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 3\Mosaic trisomy 3 syndrome
• \Congenital disease\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Mosaic trisomy 3 syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Mosaic trisomy 3 syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3654255013	Mosaic trisomy 3 syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3654256014	Mosaic trisomy chromosome 3	en	Synonym	Active	Case insensitive	SNOMED CT core
3654257017	Trisomy 3 mosaicism	en	Synonym	Active	Case insensitive	SNOMED CT core
3654258010	Mosaic trisomy 3 syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3654259019	A rare chromosomal anomaly syndrome with high phenotypic variability. Manifestations range from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (pectus excavatum, scoliosis), ocular (coloboma) and cardiac abnormalities.	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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