768929003: Trisomy 8p 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 8\Partial trisomy of short arm of chromosome 8\Trisomy 8p syndrome
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 8\Partial trisomy of short arm of chromosome 8\Trisomy 8p syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 8\Partial trisomy of chromosome 8\Partial trisomy of short arm of chromosome 8\Trisomy 8p syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 8\Partial trisomy of short arm of chromosome 8\Trisomy 8p syndrome
• \Congenital disease\Congenital chromosomal disease\...
• \Anomaly of chromosome pair\Anomaly of chromosome pair 8\Partial trisomy of chromosome 8\Partial trisomy of short arm of chromosome 8\Trisomy 8p syndrome
• \Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 8\Partial trisomy of short arm of chromosome 8\Trisomy 8p syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3687521013	Trisomy 8p syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3687522018	Trisomy 8p syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3687523011	Duplication 8p	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3687524017	A rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8. The disease has a highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (for example mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia 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

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