763277009: Distal trisomy 8q (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\8q partial trisomy syndrome\Distal trisomy 8q
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 8\8q partial trisomy syndrome\Distal trisomy 8q
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 8\Partial trisomy of chromosome 8\8q partial trisomy syndrome\Distal trisomy 8q
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 8\8q partial trisomy syndrome\Distal trisomy 8q
• \Congenital disease\Congenital chromosomal disease\...
• \Anomaly of chromosome pair\Anomaly of chromosome pair 8\Partial trisomy of chromosome 8\8q partial trisomy syndrome\Distal trisomy 8q
• \Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 8\8q partial trisomy syndrome\Distal trisomy 8q

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3638366015	Distal trisomy 8q	en	Synonym	Active	Case insensitive	SNOMED CT core
3638367012	Distal trisomy 8q (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3638368019	Distal duplication 8q	en	Synonym	Active	Case insensitive	SNOMED CT core
3638369010	A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8. The disorder has a highly variable phenotype with typical characteristics of growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects, skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss and seizures).	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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