764630003: Mosaic trisomy 7 syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 7\Mosaic trisomy 7 syndrome
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 7\Mosaic trisomy 7 syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 7\Trisomy 7\Mosaic trisomy 7 syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 7\Mosaic trisomy 7 syndrome
• \Congenital disease\Congenital chromosomal disease\...
• \Anomaly of chromosome pair\Anomaly of chromosome pair 7\Trisomy 7\Mosaic trisomy 7 syndrome
• \Trisomy and partial trisomy of autosome\Trisomy 7\Mosaic trisomy 7 syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3654270014	Mosaic trisomy chromosome 7	en	Synonym	Active	Case insensitive	SNOMED CT core
3654271013	Trisomy 7 mosaicism	en	Synonym	Active	Case insensitive	SNOMED CT core
3654272018	Mosaic trisomy 7 syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3654273011	Mosaic trisomy 7 syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3654274017	A rare chromosomal anomaly syndrome with a highly variable phenotype. Manifestations include Blaschko linear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears and micrognathia) and genital anomalies (undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases 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

Australian dialect reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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