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717973004: Chromosome 3q29 duplication 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
3310742010 Chromosome 3q29 duplication syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3310743017 3q29 microduplication en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3310744011 Trisomy 3q29 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3310745012 Chromosome 3q29 duplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401658019 3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3310742010 Chromosome 3q29 duplication syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3310742010 Chromosome 3q29 duplication syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3310743017 3q29 microduplication en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3310743017 3q29 microduplication en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3310744011 Trisomy 3q29 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3310744011 Trisomy 3q29 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3310745012 Chromosome 3q29 duplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3310745012 Chromosome 3q29 duplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3310746013 A recently described chromosomal abnormality with unclear clinical significance. Reported in fewer than 30 patients. The clinical phenotype is extremely variable and the most consistent features are mild or moderate intellectual deficit and microcephaly. These microduplications appear de novo or are inherited from mildly affected or completely normal parents. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401658019 3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3426711001000117 Mikroduplikationssyndrom 3q29 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5996201000241119 syndrome de microduplication 3q29 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5996211000241117 trisomie 3q29 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5996201000241119 syndrome de microduplication 3q29 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5996211000241117 trisomie 3q29 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3426711001000117 Mikroduplikationssyndrom 3q29 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
3q29 microduplication Is a Anomaly of chromosome pair 3 (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
3q29 microduplication Is a Duplication of chromosome (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
3q29 microduplication Is a Trisomy and partial trisomy of autosome false Inferred relationship Existential restriction modifier (core metadata concept)
3q29 microduplication Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 1
3q29 microduplication Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
3q29 microduplication Finding site Chromosome pair 3 true Inferred relationship Existential restriction modifier (core metadata concept) 1
3q29 microduplication Is a Partial trisomy of chromosome 3 true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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