205653005: Trisomy 12 (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 12\Trisomy 12

\Trisomy and partial trisomy of autosome\Trisomy 12

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 12
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 12
\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\Anomaly of chromosome pair 12\Trisomy 12
\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Trisomy and partial trisomy of autosome\Trisomy 12

Status: current, 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

315395017 Trisomy 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

591051011 Trisomy 12 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1696411000005112 trisomi 12 da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Trisomy 12	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Trisomy 12	Occurrence	Congenital	false	Inferred relationship	Some
Trisomy 12	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Trisomy 12	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Trisomy 12	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Trisomy 12	Associated morphology	kongenit anomali	false	Inferred relationship	Some
Trisomy 12	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Trisomy 12	Occurrence	Congenital	true	Inferred relationship	Some	1
Trisomy 12	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
Trisomy 12	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Trisomy 12	Is a	Anomaly of chromosome pair 12	true	Inferred relationship	Some
Trisomy 12	Associated morphology	Trisomy	true	Inferred relationship	Some	1
Trisomy 12	Finding site	Chromosome pair 12 (cell structure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Partial trisomy of chromosome 12	Is a	True	Trisomy 12	Inferred relationship	Some
Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported.	Is a	True	Trisomy 12	Inferred relationship	Some

This concept is not in any reference sets