768930008: Partial trisomy of short arm of chromosome 8 (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 8\Partial trisomy of chromosome 8\Partial trisomy of short arm of chromosome 8

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 8\Partial trisomy of short arm of chromosome 8

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 8\Partial trisomy of short arm of chromosome 8
\Chromosomal disorder (disorder)\Duplication of chromosome (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 8\Partial trisomy of short arm of chromosome 8
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 8\Partial trisomy of chromosome 8\Partial trisomy of short arm of chromosome 8
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 8\Partial trisomy of short arm of chromosome 8

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

3687525016 Partial trisomy of short arm of chromosome 8 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3687526015 Partial trisomy of short arm of chromosome 8 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3687527012 Partial duplication short arm chromosome 8 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3687525016 Partial trisomy of short arm of chromosome 8 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3687526015 Partial trisomy of short arm of chromosome 8 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3687527012 Partial duplication short arm chromosome 8 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5518621000241118 trisomie partielle du bras court du chromosome 8 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5518621000241118 trisomie partielle du bras court du chromosome 8 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
Partial trisomy of short arm of chromosome 8	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Partial trisomy of short arm of chromosome 8	Is a	Partial trisomy of chromosome 8	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy of short arm of chromosome 8	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial trisomy of short arm of chromosome 8	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Partial trisomy of short arm of chromosome 8	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial trisomy of short arm of chromosome 8	Finding site	Chromosome pair 8	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial trisomy of short arm of chromosome 8	Finding site	Short arm of chromosome	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Trisomy 8p syndrome	Is a	True	Partial trisomy of short arm of chromosome 8	Inferred relationship	Existential restriction modifier (core metadata concept)
8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (including prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).	Is a	True	Partial trisomy of short arm of chromosome 8	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal trisomy 8p (disorder)	Is a	True	Partial trisomy of short arm of chromosome 8	Inferred relationship	Existential restriction modifier (core metadata concept)
Proximal duplication of short arm of chromosome 8	Is a	True	Partial trisomy of short arm of chromosome 8	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets