764996009: Non-distal trisomy 13q (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Disorder of foetus and/or newborn\Congenital disease (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
• \Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\13q partial trisomy syndrome\Non-distal trisomy 13q
• \Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\13q partial trisomy syndrome\Non-distal trisomy 13q
• \Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\13q partial trisomy syndrome\Non-distal trisomy 13q
• \Chromosomal disorder (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 (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\13q partial trisomy syndrome\Non-distal trisomy 13q

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3655994013	Non-distal trisomy 13q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3655995014	Non-distal duplication 13q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3655996010	Non-distal trisomy 13q (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3655997018	Non-telomeric trisomy 13q	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5404450019	Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404451015	Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterised by increased polymorphonuclear leucocyte projections and persistence of fetal haemoglobin, as well as 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	Entire term case sensitive (core metadata concept)	SNOMED CT core

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