764520001: 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\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\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\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\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\Distal trisomy 9q
• \Trisomy and partial trisomy of autosome\Trisomy 9\Partial trisomy of chromosome 9\9q partial trisomy syndrome\Distal trisomy 9q

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3650189010	Distal trisomy 9q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3650190018	Distal duplication 9q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3650191019	Telomeric duplication 9q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3650192014	Distal trisomy 9q (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3649932014	A rare chromosomal anomaly resulting from the partial trisomy of the long arm of chromosome 9 with a variable phenotype. The disease has characteristics of psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.	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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