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719665003: 5q35 microduplication syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3317302017 5q35 microduplication syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317303010 5q35 microduplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317304016 Trisomy 5q35 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402198018 The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3317302017 5q35 microduplication syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3317302017 5q35 microduplication syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317303010 5q35 microduplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3317303010 5q35 microduplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317304016 Trisomy 5q35 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3317304016 Trisomy 5q35 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317305015 The newly described syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation. It has been reported in two unrelated patients. There is no remarkable facial dysmorphism. The clinical picture is opposite to that of patients with Sotos syndrome. The breakpoints of the duplication in both patients map to the proximal and distal low-copy repeats which flank the Sotos critical region. These findings support a non-allelic homologous recombination as the mechanism of duplication, and a dosage effect of the Sotos gene NSD1 (5q35). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402198018 The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3450631001000115 Mikroduplikationssyndrom 5q35 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
906661000172111 syndrome de microduplication 5q35 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
974601000172112 dup(5)(q35) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
906661000172111 syndrome de microduplication 5q35 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
974601000172112 dup(5)(q35) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3450631001000115 Mikroduplikationssyndrom 5q35 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
5q35 microduplication syndrome (disorder) Is a Anomaly of chromosome pair 5 (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
5q35 microduplication syndrome (disorder) Is a Trisomy and partial trisomy of autosome false Inferred relationship Existential restriction modifier (core metadata concept)
5q35 microduplication syndrome (disorder) Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 1
5q35 microduplication syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
5q35 microduplication syndrome (disorder) Finding site Chromosome pair 5 true Inferred relationship Existential restriction modifier (core metadata concept) 1
5q35 microduplication syndrome (disorder) Is a Partial trisomy of chromosome 5 (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
5q35 microduplication syndrome (disorder) Is a Partial trisomy of long arm of chromosome 5 true Inferred relationship Existential restriction modifier (core metadata concept)
5q35 microduplication syndrome (disorder) Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 2
5q35 microduplication syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
5q35 microduplication syndrome (disorder) Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
5q35 microduplication syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
5q35 microduplication syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
5q35 microduplication syndrome (disorder) Is a Multiple system malformation syndrome 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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