897549008: Distal duplication of chromosome 13 (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Fetal and/or neonatal disorder\Congenital disease\Congenital chromosomal disease\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 13\Partial trisomy of chromosome 13\Distal duplication of chromosome 13 (disorder)

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\Distal duplication of chromosome 13 (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\Distal duplication of chromosome 13 (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\Distal duplication of chromosome 13 (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 13\Partial trisomy of chromosome 13\Distal duplication of chromosome 13 (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\Distal duplication of chromosome 13 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4034294019 Distal duplication of chromosome 13 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4034295018 Distal duplication of chromosome 13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6087451000241113 duplication distale du chromosome 13 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal duplication of chromosome 13 (disorder)	Finding site	Chromosome pair 13	true	Inferred relationship	Some	1
Distal duplication of chromosome 13 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Distal duplication of chromosome 13 (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Distal duplication of chromosome 13 (disorder)	Is a	Partial trisomy of chromosome 13	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (including 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.	Is a	True	Distal duplication of chromosome 13 (disorder)	Inferred relationship	Some

This concept is not in any reference sets