768931007: Partial trisomy of long arm of chromosome 1 (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 1\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1
\Chromosomal disorder (disorder)\Duplication of chromosome (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1

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

3687528019 Partial duplication of long arm of chromosome 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3687529010 Partial trisomy of long arm of chromosome 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3687530017 Partial trisomy of long arm of chromosome 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3687528019 Partial duplication of long arm of chromosome 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3687529010 Partial trisomy of long arm of chromosome 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3687530017 Partial trisomy of long arm of chromosome 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5518641000241114 trisomie partielle du bras long du chromosome 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5518641000241114 trisomie partielle du bras long du chromosome 1 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 long arm of chromosome 1	Finding site	Chromosome pair 1	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Partial trisomy of long arm of chromosome 1	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Partial trisomy of long arm of chromosome 1	Finding site	Long arm of chromosome (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial trisomy of long arm of chromosome 1	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial trisomy of long arm of chromosome 1	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial trisomy of long arm of chromosome 1	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Partial trisomy of long arm of chromosome 1	Is a	Partial trisomy of chromosome 1	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Trisomy 1q syndrome	Is a	True	Partial trisomy of long arm of chromosome 1	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression. The syndrome has characteristics of macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.	Is a	True	Partial trisomy of long arm of chromosome 1	Inferred relationship	Existential restriction modifier (core metadata concept)
Mosaic 1q duplication	Is a	True	Partial trisomy of long arm of chromosome 1	Inferred relationship	Existential restriction modifier (core metadata concept)
Proximal duplication of long arm of chromosome 1	Is a	True	Partial trisomy of long arm of chromosome 1	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal trisomy 1q (disorder)	Is a	True	Partial trisomy of long arm of chromosome 1	Inferred relationship	Existential restriction modifier (core metadata concept)
Medial duplication of long arm of chromosome 1	Is a	True	Partial trisomy of long arm of chromosome 1	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets