764997000: Non-distal trisomy 9q (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 9\Partial trisomy of chromosome 9\9q partial trisomy syndrome\Non-distal trisomy 9q
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 9\Partial trisomy of chromosome 9\9q partial trisomy syndrome\Non-distal trisomy 9q
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 9\Trisomy 9\Partial trisomy of chromosome 9\9q partial trisomy syndrome\Non-distal trisomy 9q
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 9\Partial trisomy of chromosome 9\9q partial trisomy syndrome\Non-distal trisomy 9q
• \Congenital disease\Congenital chromosomal disease\...
• \Anomaly of chromosome pair\Anomaly of chromosome pair 9\Trisomy 9\Partial trisomy of chromosome 9\9q partial trisomy syndrome\Non-distal trisomy 9q
• \Trisomy and partial trisomy of autosome\Trisomy 9\Partial trisomy of chromosome 9\9q partial trisomy syndrome\Non-distal trisomy 9q

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3656004010	Non-distal duplication 9q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3656005011	Non-telomeric trisomy 9q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3656006012	Non-distal trisomy 9q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3656007015	Non-distal trisomy 9q (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3656008013	A rare chromosomal anomaly syndrome resulting from the partial trisomy of the long arm of chromosome 9. The disease has a highly variable phenotype principally characterised by developmental delay, short stature, intellectual disability and craniofacial dysmorphism (microcephaly, broad forehead, low set ears, epicanthus, prominent nose and retrognathia). Cardiac, ocular, thyroid and oesophagus defects along with central nervous system and behavioural/psychiatric abnormalities have also been reported.	en	Definition	Active	Case sensitive	SNOMED CT core
3656009017	A rare chromosomal anomaly syndrome resulting from the partial trisomy of the long arm of chromosome 9. The disease has a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability and craniofacial dysmorphism (microcephaly, broad forehead, low set ears, epicanthus, prominent nose and retrognathia). Cardiac, ocular, thyroid and esophagus defects along with central nervous system and behavioral/psychiatric abnormalities 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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