764454003: 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\Distal duplication of chromosome 13\Distal trisomy 13q
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\13q partial trisomy syndrome\Distal trisomy 13q
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\Distal duplication of chromosome 13\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\Distal trisomy 13q
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 13\Partial trisomy of chromosome 13\Distal duplication of chromosome 13\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\Distal trisomy 13q
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\Distal duplication of chromosome 13\Distal trisomy 13q
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\13q partial trisomy syndrome\Distal trisomy 13q
• \Congenital disease\Congenital chromosomal disease\...
• \Anomaly of chromosome pair\Anomaly of chromosome pair 13\Partial trisomy of chromosome 13\...
• \Distal duplication of chromosome 13\Distal trisomy 13q
• \13q partial trisomy syndrome\Distal trisomy 13q
• \Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\...
• \Distal duplication of chromosome 13\Distal trisomy 13q
• \13q partial trisomy syndrome\Distal trisomy 13q

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3650159015	Distal trisomy 13q (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3650160013	Distal trisomy 13q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3650161012	Distal duplication 13q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3650162017	Telomeric duplication 13q	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3650163010	A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 13 with variable phenotype. Principle characteristics are intellectual disability, psychomotor delay, craniofacial dysmorphism (microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.	en	Definition	Active	Case sensitive	SNOMED CT core
3650164016	A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 13 with variable phenotype. Principle characteristics are intellectual disability, psychomotor delay, craniofacial dysmorphism (microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and haemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, 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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