726706008: 4p16.3 microduplication syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 4\4p partial trisomy syndrome\4p16.3 microduplication syndrome
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 4\4p partial trisomy syndrome\4p16.3 microduplication syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 4\Partial trisomy of chromosome 4\4p partial trisomy syndrome\4p16.3 microduplication syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 4\4p partial trisomy syndrome\4p16.3 microduplication syndrome
• \Congenital disease\Congenital chromosomal disease\...
• \Anomaly of chromosome pair\Anomaly of chromosome pair 4\Partial trisomy of chromosome 4\4p partial trisomy syndrome\4p16.3 microduplication syndrome
• \Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 4\4p partial trisomy syndrome\4p16.3 microduplication syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3451922019	4p16.3 microduplication syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3451923012	4p16.3 microduplication syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3451924018	Distal trisomy 4p	en	Synonym	Active	Case insensitive	SNOMED CT core
3451925017	A rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally with characteristics of psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) 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

Problem/Diagnosis reference set

Back to Start