205648000: Trisomy 7 (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 7 (disorder)\Trisomy 7

\Trisomy and partial trisomy of autosome\Trisomy 7

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 7
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 7
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 7 (disorder)\Trisomy 7
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 7

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

315390010 Trisomy 7 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

591046017 Trisomy 7 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4886001000241111 trisomie 7 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 7	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Trisomy 7	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Trisomy 7	Occurrence	Congenital	false	Inferred relationship	Some
Trisomy 7	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Trisomy 7	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Trisomy 7	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
Trisomy 7	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Trisomy 7	Occurrence	Congenital	true	Inferred relationship	Some	1
Trisomy 7	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
Trisomy 7	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Trisomy 7	Is a	Anomaly of chromosome pair 7 (disorder)	true	Inferred relationship	Some
Trisomy 7	Finding site	Chromosome pair 7	true	Inferred relationship	Some	1
Trisomy 7	Associated morphology	Trisomy	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Partial trisomy of chromosome 7 (disorder)	Is a	True	Trisomy 7	Inferred relationship	Some
Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by Blaschko linear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.	Is a	True	Trisomy 7	Inferred relationship	Some

This concept is not in any reference sets