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50992006: 22q partial trisomy (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 22\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)

\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)
\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\Anomaly of chromosome pair 22\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)
\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4555269010 22q partial trisomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4555270011 22q partial trisomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1996121000005112 partiel trisomi 22q-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
22q partial trisomy (disorder)	Is a	Anomaly of chromosome pair 22	false	Inferred relationship	Some
22q partial trisomy (disorder)	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
22q partial trisomy (disorder)	Finding site	Sex chromosome	false	Inferred relationship	Some
22q partial trisomy (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
22q partial trisomy (disorder)	Associated morphology	Trisomy	false	Inferred relationship	Some
22q partial trisomy (disorder)	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
22q partial trisomy (disorder)	Finding site	Chromosome pair 22	false	Inferred relationship	Some	1
22q partial trisomy (disorder)	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
22q partial trisomy (disorder)	Associated morphology	kongenit anomali	false	Inferred relationship	Some
22q partial trisomy (disorder)	Finding site	Chromosome pair 22	false	Inferred relationship	Some	1
22q partial trisomy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
22q partial trisomy (disorder)	Finding site	Chromosome pair 22	true	Inferred relationship	Some	1
22q partial trisomy (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
22q partial trisomy (disorder)	Is a	Partial trisomy of chromosome 22	true	Inferred relationship	Some
22q partial trisomy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
22q partial trisomy (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
22q partial trisomy (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
The association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial, establishing a complementary duplication syndrome. The clinical presentation of patients is extremely variable and shares features with 22q11.2 deletion syndromes including heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal.	Is a	True	22q partial trisomy (disorder)	Inferred relationship	Some
Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disability and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (including microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip and/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported.	Is a	True	22q partial trisomy (disorder)	Inferred relationship	Some
A rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, behavioral anomalies, and non-specific craniofacial dysmorphism. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, and seizures have also been reported. Penetrance is incomplete. In 70% of cases, the duplication is inherited from an asymptomatic parent.	Is a	True	22q partial trisomy (disorder)	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4555269010	22q partial trisomy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4555270011	22q partial trisomy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1996121000005112	partiel trisomi 22q-syndrom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)