897547005: Distal duplication of chromosome 14 (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 14\Partial trisomy of chromosome 14 (disorder)\Distal duplication of chromosome 14 (disorder)

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14 (disorder)\Distal duplication of chromosome 14 (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14 (disorder)\Distal duplication of chromosome 14 (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14 (disorder)\Distal duplication of chromosome 14 (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Partial trisomy of chromosome 14 (disorder)\Distal duplication of chromosome 14 (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14 (disorder)\Distal duplication of chromosome 14 (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

4034290011 Distal duplication of chromosome 14 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4034291010 Distal duplication of chromosome 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6076671000241113 duplication distale du chromosome 14 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 14 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Distal duplication of chromosome 14 (disorder)	Finding site	Chromosome pair 14	true	Inferred relationship	Some	1
Distal duplication of chromosome 14 (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Distal duplication of chromosome 14 (disorder)	Is a	Partial trisomy of chromosome 14 (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare partial duplication of the long arm of chromosome 14 with characteristics of variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia.	Is a	False	Distal duplication of chromosome 14 (disorder)	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set