764629008: Mosaic trisomy 5 syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Mosaic trisomy 5 syndrome
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Mosaic trisomy 5 syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 5\Mosaic trisomy 5 syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Mosaic trisomy 5 syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Mosaic trisomy 5 syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 5\Mosaic trisomy 5 syndrome
• \Congenital disease\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Mosaic trisomy 5 syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Mosaic trisomy 5 syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3654265019	Trisomy 5 mosaicism	en	Synonym	Active	Case insensitive	SNOMED CT core
3654266018	Mosaic trisomy 5 syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3654267010	Mosaic trisomy 5 syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3654268017	Mosaic trisomy chromosome 5	en	Synonym	Active	Case insensitive	SNOMED CT core
3654269013	A rare chromosomal anomaly syndrome with a variable phenotype. Manifestations range from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (hypertelorism, prominent nasal bridge) and other congenital anomalies (including eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated.	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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