205655003: Trisomy 22 (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 22\Trisomy 22

\Trisomy and partial trisomy of autosome\Trisomy 22

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 22
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 22
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 22\Trisomy 22
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 22

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

315397013 Trisomy 22 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

591053014 Trisomy 22 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4886121000241119 trisomie 22 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 22	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Trisomy 22	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Trisomy 22	Occurrence	Congenital	false	Inferred relationship	Some
Trisomy 22	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Trisomy 22	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Trisomy 22	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
Trisomy 22	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Trisomy 22	Occurrence	Congenital	true	Inferred relationship	Some	1
Trisomy 22	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
Trisomy 22	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Trisomy 22	Is a	Anomaly of chromosome pair 22	true	Inferred relationship	Some
Trisomy 22	Finding site	Chromosome pair 22	true	Inferred relationship	Some	1
Trisomy 22	Associated morphology	Trisomy	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Partial trisomy of chromosome 22	Is a	True	Trisomy 22	Inferred relationship	Some
Mosaic trisomy 22 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by prenatal and postnatal growth delay, mild to severe intellectual disability, hemiatrophy, webbed neck, ocular and cutaneous pigmentary anomalies, craniofacial dysmorphic features (e.g. microcephaly, upslanted palpebral fissures, ptosis, ear malformations, flat nasal bridge, micrognathia) and cardiac abnormalities (including ventricular and atrial septal defect, pulmonary or aortic stenosis). Hearing loss and limb malformations (e.g. cubitus valgus, syn/brachydactyly), as well as renal and genital anomalies, have also been reported.	Is a	True	Trisomy 22	Inferred relationship	Some
Complete trisomy 22 syndrome	Is a	True	Trisomy 22	Inferred relationship	Some

This concept is not in any reference sets