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5982001: 2q partial trisomy syndrome (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 2\Partial trisomy of chromosome 2 (disorder)\2q partial trisomy syndrome

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2 (disorder)\2q partial trisomy syndrome

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2 (disorder)\2q partial trisomy syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2 (disorder)\2q partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Partial trisomy of chromosome 2 (disorder)\2q partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2 (disorder)\2q partial trisomy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

10946013 2q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

798705014 2q partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1792481000005112 partiel trisomi 2q-syndrom 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
2q partial trisomy syndrome	Is a	Anomaly of chromosome pair 2	false	Inferred relationship	Some
2q partial trisomy syndrome	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
2q partial trisomy syndrome	Finding site	Chromosome pair 2 (cell structure)	false	Inferred relationship	Some	1
2q partial trisomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
2q partial trisomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
2q partial trisomy syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
2q partial trisomy syndrome	Associated morphology	Trisomy	false	Inferred relationship	Some
2q partial trisomy syndrome	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
2q partial trisomy syndrome	Finding site	Chromosome pair 2 (cell structure)	false	Inferred relationship	Some	1
2q partial trisomy syndrome	Associated morphology	kongenit anomali	false	Inferred relationship	Some
2q partial trisomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
2q partial trisomy syndrome	Finding site	Chromosome pair 2 (cell structure)	true	Inferred relationship	Some	1
2q partial trisomy syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
2q partial trisomy syndrome	Is a	Partial trisomy of chromosome 2 (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.	Is a	True	2q partial trisomy syndrome	Inferred relationship	Some
2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioral problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.	Is a	True	2q partial trisomy syndrome	Inferred relationship	Some
A rare genetic chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 with characteristics of congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers.	Is a	True	2q partial trisomy syndrome	Inferred relationship	Some
Medial duplication of long arm of chromosome 2	Is a	True	2q partial trisomy syndrome	Inferred relationship	Some
Proximal duplication of long arm of chromosome 2	Is a	True	2q partial trisomy syndrome	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
10946013	2q partial trisomy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
798705014	2q partial trisomy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1792481000005112	partiel trisomi 2q-syndrom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)