205651007: Trisomy 10 (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 10\Trisomy 10

\Trisomy and partial trisomy of autosome\Trisomy 10

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 10
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 10
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 10\Trisomy 10
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 10

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

315393012 Trisomy 10 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

591049012 Trisomy 10 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4886061000241110 trisomie 10 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
Trisomy 10	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Trisomy 10	Occurrence	Congenital	false	Inferred relationship	Some
Trisomy 10	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Trisomy 10	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Trisomy 10	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Trisomy 10	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
Trisomy 10	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Trisomy 10	Occurrence	Congenital	true	Inferred relationship	Some	1
Trisomy 10	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
Trisomy 10	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Trisomy 10	Is a	Anomaly of chromosome pair 10	true	Inferred relationship	Some
Trisomy 10	Finding site	Chromosome pair 10	true	Inferred relationship	Some	1
Trisomy 10	Associated morphology	Trisomy	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10.	Is a	True	Trisomy 10	Inferred relationship	Some
Partial trisomy of chromosome 10 (disorder)	Is a	True	Trisomy 10	Inferred relationship	Some
Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (including prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually occurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.	Is a	True	Trisomy 10	Inferred relationship	Some

This concept is not in any reference sets