205650008: Trisomy 9 (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 9 (disorder)\Trisomy 9

\Trisomy and partial trisomy of autosome\Trisomy 9

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 9
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 9
\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\Anomaly of chromosome pair 9 (disorder)\Trisomy 9
\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Trisomy and partial trisomy of autosome\Trisomy 9

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

315392019 Trisomy 9 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

591048016 Trisomy 9 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1696381000005114 trisomi 9 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 9	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Trisomy 9	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Trisomy 9	Occurrence	Congenital	false	Inferred relationship	Some
Trisomy 9	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Trisomy 9	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Trisomy 9	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Trisomy 9	Associated morphology	kongenit anomali	false	Inferred relationship	Some
Trisomy 9	Occurrence	Congenital	true	Inferred relationship	Some	1
Trisomy 9	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
Trisomy 9	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Trisomy 9	Is a	Anomaly of chromosome pair 9 (disorder)	true	Inferred relationship	Some
Trisomy 9	Finding site	Chromosome pair 9	true	Inferred relationship	Some	1
Trisomy 9	Associated morphology	Trisomy	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Complete trisomy 9 syndrome	Is a	True	Trisomy 9	Inferred relationship	Some
Partial trisomy of chromosome 9 (disorder)	Is a	True	Trisomy 9	Inferred relationship	Some
Mosaic trisomy 9 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intellectual disability, growth and developmental delay, facial dysmorphism (including microphthalmia, deep-set eyes, low-set, malformed ears, bulbous nose, high-arched palate, micrognathia) and congenital heart defects (e.g. ventricular septal defect), as well as urogenital (e.g. hypoplastic genitalia, cryptorchidism), skeletal (congenital joint dislocations or hyperflexion, scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus, Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed.	Is a	True	Trisomy 9	Inferred relationship	Some

This concept is not in any reference sets