FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

699311001: 22q11.2 duplication syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2983751019 Chromosome 22q11.2 microduplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2983753016 22q11.2 duplication en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2983761014 Chromosome 22q11.2 duplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4555271010 22q11.2 duplication syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555272015 22q11.2 duplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3650048010 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
2983751019 Chromosome 22q11.2 microduplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2983751019 Chromosome 22q11.2 microduplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983751019 Chromosome 22q11.2 microduplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2983753016 22q11.2 duplication en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2983753016 22q11.2 duplication en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983753016 22q11.2 duplication en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2983761014 Chromosome 22q11.2 duplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2983761014 Chromosome 22q11.2 duplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983761014 Chromosome 22q11.2 duplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2983786017 22q11.2 duplication (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2983786017 22q11.2 duplication (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2983786017 22q11.2 duplication (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4555271010 22q11.2 duplication syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555272015 22q11.2 duplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3650048010 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3390621001000118 Mikroduplikationssyndrom 22q11.2 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5935721000241117 syndrome de duplication 22q11.2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5935731000241115 trisomie 22q11.2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5935741000241113 syndrome de microduplication 22q11.2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5935721000241117 syndrome de duplication 22q11.2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5935731000241115 trisomie 22q11.2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5935741000241113 syndrome de microduplication 22q11.2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3390621001000118 Mikroduplikationssyndrom 22q11.2 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
22q11.2 duplication syndrome (disorder) Is a Autosomal dominant hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
22q11.2 duplication syndrome (disorder) Is a Duplication of chromosome (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
22q11.2 duplication syndrome (disorder) Is a Anomaly of chromosome pair 22 false Inferred relationship Existential restriction modifier (core metadata concept)
22q11.2 duplication syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
22q11.2 duplication syndrome (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
22q11.2 duplication syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
22q11.2 duplication syndrome (disorder) Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Existential restriction modifier (core metadata concept) 1
22q11.2 duplication syndrome (disorder) Finding site Chromosome pair 22 false Inferred relationship Existential restriction modifier (core metadata concept) 1
22q11.2 duplication syndrome (disorder) Is a 22q partial trisomy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
22q11.2 duplication syndrome (disorder) Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 1
22q11.2 duplication syndrome (disorder) Is a Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
22q11.2 duplication syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
22q11.2 duplication syndrome (disorder) Finding site Short arm of chromosome false Inferred relationship Existential restriction modifier (core metadata concept) 1
22q11.2 duplication syndrome (disorder) Finding site Chromosome pair 22 true Inferred relationship Existential restriction modifier (core metadata concept) 2
22q11.2 duplication syndrome (disorder) Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 2
22q11.2 duplication syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
22q11.2 duplication syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
22q11.2 duplication syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
22q11.2 duplication syndrome (disorder) Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

Back to Start