764619001: Mosaic trisomy 15 syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Mosaic trisomy 15 syndrome
• \Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Mosaic trisomy 15 syndrome
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 15\Mosaic trisomy 15 syndrome
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Mosaic trisomy 15 syndrome
• \Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Mosaic trisomy 15 syndrome
• \Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 15\Mosaic trisomy 15 syndrome
• \Congenital disease (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Mosaic trisomy 15 syndrome
• \Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Mosaic trisomy 15 syndrome

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
3654206016	Trisomy 15 mosaicism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3654207013	Mosaic trisomy 15 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3654208015	Mosaic trisomy chromosome 15	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3654209011	Mosaic trisomy 15 syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3654096019	A rare chromosomal anomaly syndrome with principle characteristics of intrauterine growth restriction, congenital cardiac anomalies (ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (hypoplastic cerebellum, ventricular asymmetry), renal (small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4158271000052112	trisomi 15-mosaiksyndromet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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