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716683005: 17q21.31 microduplication syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3307195012 17q21.31 microduplication syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3307196013 17q21.31 microduplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3307199018 Trisomy 17q21.31 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401358012 The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401359016 The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioural disorders and poor social interaction seem to be the most consistent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3307195012 17q21.31 microduplication syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3307195012 17q21.31 microduplication syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3307196013 17q21.31 microduplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3307196013 17q21.31 microduplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3307199018 Trisomy 17q21.31 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3307199018 Trisomy 17q21.31 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3307197016 The syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent. Only five patients have been reported to date. All patients have behavioral disorders suggesting that some of the genes within the duplication interval may be candidates for the autistic spectrum. Intellectual skills range from normal to mild intellectual deficiency. Other features are variable with no striking common phenotypic features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3307198014 The syndrome is associated with a broad clinical spectrum, of which behavioural disorders and poor social interaction seem to be the most consistent. Only five patients have been reported to date. All patients have behavioural disorders suggesting that some of the genes within the duplication interval may be candidates for the autistic spectrum. Intellectual skills range from normal to mild intellectual deficiency. Other features are variable with no striking common phenotypic features. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401358012 The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401359016 The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioural disorders and poor social interaction seem to be the most consistent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3434171001000115 Mikroduplikationssyndrom 17q21.31 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
963151000172111 syndrome de microduplication 17q21.31 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
964501000172118 dup(17)(q21.31) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
963151000172111 syndrome de microduplication 17q21.31 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
964501000172118 dup(17)(q21.31) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3434171001000115 Mikroduplikationssyndrom 17q21.31 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
17q21.31 microduplication syndrome Is a 17q partial trisomy syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
17q21.31 microduplication syndrome Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 1
17q21.31 microduplication syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
17q21.31 microduplication syndrome Finding site Chromosome pair 17 (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

GB English

US English

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