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79229009: Chromosome pair 22 (cell structure)

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
131463018 Chromosome pair 22 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1204766018 Chromosome pair 22 (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
131463018 Chromosome pair 22 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
131463018 Chromosome pair 22 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
820256011 Chromosome pair 22 (body structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1204766018 Chromosome pair 22 (cell structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1204766018 Chromosome pair 22 (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chromosome pair 22 Is a Chromosome true Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome pair 22 partie de Nucleus false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
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. Finding site False Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
22q partial monosomy Finding site False Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
Cat eye syndrome (disorder) Finding site False Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
22q partial trisomy (disorder) Finding site False Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 22 Finding site False Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 22 syndrome (disorder) Finding site False Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
22q partial monosomy Finding site False Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 22 Finding site False Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
Cat eye syndrome (disorder) Finding site False Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 22 syndrome (disorder) Finding site False Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
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. Finding site False Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
22q partial trisomy (disorder) Finding site False Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 22 syndrome (disorder) Finding site True Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
Cat eye syndrome (disorder) Finding site True Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
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. Finding site True Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
22q11.2 duplication syndrome (disorder) Finding site False Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 22 Finding site True Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
22q13.3 deletion syndrome Finding site False Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
22q partial trisomy (disorder) Finding site True Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
22q partial monosomy Finding site False Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
22q partial monosomy Finding site True Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of chromosome 22 (disorder) Finding site True Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 22 (disorder) Finding site True Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal 22q11.2 microdeletion syndrome (disorder) Finding site True Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal 22q11.2 microdeletion syndrome (disorder) Finding site False Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal trisomy 22q Finding site False Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
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. Finding site False Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 22 syndrome Finding site True Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 22 Finding site True Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 22 syndrome Finding site True Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
22q11.2 deletion syndrome (disorder) Finding site True Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 2
22q11.2 deletion syndrome (disorder) Finding site False Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 22 Finding site True Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
Monosomy 22 syndrome (disorder) Finding site True Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 1
22q11.2 duplication syndrome (disorder) Finding site True Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 2
22q13.3 deletion syndrome Finding site True Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 22q Finding site True Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 2
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. Finding site True Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 2
22q11 partial monosomy syndrome Finding site False Chromosome pair 22 Inferred relationship Existential restriction modifier (core metadata concept) 2

This concept is not in any reference sets

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