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50992006: 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
4556371000241110 trisomie partielle 22q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3 descendants. Search Descendants:

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 anomalie congénitale false Inferred relationship Some 1
22q partial trisomy (disorder) Associated morphology anomalie congénitale 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
A rare chromosomal anomaly characterised by an extremely variable clinical phenotype and may include 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

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