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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
84978016 22q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
84978016 22q partial trisomy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
84978016 22q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
788842014 22q partial trisomy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
788842014 22q partial trisomy syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
788842014 22q partial trisomy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
788842014 22q partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
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
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 Existential restriction modifier (core metadata concept)
22q partial trisomy (disorder) Is a Trisomy and partial trisomy of autosome false Inferred relationship Existential restriction modifier (core metadata concept)
22q partial trisomy (disorder) Finding site Sex chromosome false Inferred relationship Existential restriction modifier (core metadata concept)
22q partial trisomy (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
22q partial trisomy (disorder) Associated morphology Trisomy (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept)
22q partial trisomy (disorder) Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier (core metadata concept)
22q partial trisomy (disorder) Finding site Chromosome pair 22 false Inferred relationship Existential restriction modifier (core metadata concept) 1
22q partial trisomy (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
22q partial trisomy (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
22q partial trisomy (disorder) Finding site Chromosome pair 22 false Inferred relationship Existential restriction modifier (core metadata concept) 1
22q partial trisomy (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
22q partial trisomy (disorder) Finding site Chromosome pair 22 true Inferred relationship Existential restriction modifier (core metadata concept) 1
22q partial trisomy (disorder) Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 1
22q partial trisomy (disorder) Is a Partial trisomy of chromosome 22 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
22q partial trisomy (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
22q partial trisomy (disorder) Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
22q partial trisomy (disorder) Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
22q11.2 duplication syndrome (disorder) Is a True 22q partial trisomy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Distal trisomy 22q Is a True 22q partial trisomy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)

Reference Sets

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