764996009: Non-distal trisomy 13q (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\13q partial trisomy syndrome\Non-distal trisomy 13q
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\13q partial trisomy syndrome\Non-distal trisomy 13q
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 13\Partial trisomy of chromosome 13\13q partial trisomy syndrome\Non-distal trisomy 13q
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\13q partial trisomy syndrome\Non-distal trisomy 13q
• \Congenital disease\Congenital chromosomal disease\...
• \Anomaly of chromosome pair\Anomaly of chromosome pair 13\Partial trisomy of chromosome 13\13q partial trisomy syndrome\Non-distal trisomy 13q
• \Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\13q partial trisomy syndrome\Non-distal trisomy 13q

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3655994013	Non-distal trisomy 13q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3655995014	Non-distal duplication 13q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3655996010	Non-distal trisomy 13q (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3655997018	Non-telomeric trisomy 13q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3656002014	A rare chromosomal anomaly disorder resulting from the partial duplication of the proximal long arm of chromosome 13 with a highly variable phenotype. The disease is principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, growth and developmental delay and craniofacial dysmorphism (including microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.	en	Definition	Active	Case sensitive	SNOMED CT core
3656003016	A rare chromosomal anomaly disorder resulting from the partial duplication of the proximal long arm of chromosome 13 with a highly variable phenotype. The disease is principally characterised by increased polymorphonuclear leucocyte projections and persistence of fetal haemoglobin, growth and developmental delay and craniofacial dysmorphism (including microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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