770666006: Non-distal trisomy 10q (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 10\Partial trisomy of chromosome 10\10q partial trisomy syndrome\Non-distal trisomy 10q
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 10\Partial trisomy of chromosome 10\10q partial trisomy syndrome\Non-distal trisomy 10q
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 10\Trisomy 10\Partial trisomy of chromosome 10\10q partial trisomy syndrome\Non-distal trisomy 10q
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 10\Partial trisomy of chromosome 10\10q partial trisomy syndrome\Non-distal trisomy 10q
• \Congenital disease\Congenital chromosomal disease\...
• \Anomaly of chromosome pair\Anomaly of chromosome pair 10\Trisomy 10\Partial trisomy of chromosome 10\10q partial trisomy syndrome\Non-distal trisomy 10q
• \Trisomy and partial trisomy of autosome\Trisomy 10\Partial trisomy of chromosome 10\10q partial trisomy syndrome\Non-distal trisomy 10q

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3701922019	Non-telomeric trisomy 10q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3701923012	Non-distal trisomy 10q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3701924018	Non-distal duplication 10q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3701925017	Non-distal trisomy 10q (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3701773016	A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 10. Characteristics include mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (including microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (for example iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (for example septal ventricular defect), anal atresia, and cryptorchidism.	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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