70452003: Anomaly of chromosome pair 22 (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

\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\Anomaly of chromosome pair 22

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

117038011 Anomaly of chromosome pair 22 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

810510017 Anomaly of chromosome pair 22 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2997611000005112 anomali i kromosompar 22 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
Anomaly of chromosome pair 22	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 22	Finding site	Chromosome pair 22	false	Inferred relationship	Some	1
Anomaly of chromosome pair 22	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 22	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 22	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 22	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 22	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Anomaly of chromosome pair 22	Finding site	Chromosome pair 22	false	Inferred relationship	Some	1
Anomaly of chromosome pair 22	Associated morphology	kongenit anomali	false	Inferred relationship	Some
Anomaly of chromosome pair 22	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 22	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome pair 22	Finding site	Chromosome pair 22	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics.	Is a	True	Anomaly of chromosome pair 22	Inferred relationship	Some
22q partial monosomy (disorder)	Is a	False	Anomaly of chromosome pair 22	Inferred relationship	Some
A rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal. Most patients have a small supernumerary bi-satellited marker chromosome that results in partial tetrasomy of 22pter-22q11. In one third of cases, this extra chromosome is present in a mosaic state. Other cytogenetic anomalies have been rarely reported, including partial trisomy of chromosome 22 and intrachromosomal triplication of the 22q11 region.	Is a	False	Anomaly of chromosome pair 22	Inferred relationship	Some
22q partial trisomy (disorder)	Is a	False	Anomaly of chromosome pair 22	Inferred relationship	Some
Complete trisomy 22 syndrome	Is a	False	Anomaly of chromosome pair 22	Inferred relationship	Some
A chromosome microdeletion syndrome with characteristics of neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.	Is a	False	Anomaly of chromosome pair 22	Inferred relationship	Some
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	False	Anomaly of chromosome pair 22	Inferred relationship	Some
Deletion of part of chromosome 22 (disorder)	Is a	True	Anomaly of chromosome pair 22	Inferred relationship	Some
Partial trisomy of chromosome 22	Is a	False	Anomaly of chromosome pair 22	Inferred relationship	Some
Trisomy 22	Is a	True	Anomaly of chromosome pair 22	Inferred relationship	Some
Maternal uniparental disomy of chromosome 22 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.	Is a	True	Anomaly of chromosome pair 22	Inferred relationship	Some
A rare autosomal anomaly syndrome with a highly variable phenotype and typical characteristics of short length, joint abnormalities (for example dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (including microcephaly, a high prominent narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise.	Is a	True	Anomaly of chromosome pair 22	Inferred relationship	Some

This concept is not in any reference sets