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721158009: Deletion 5q35 (disorder)

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3324481017 Deletion 5q35 en Synonym Active Case insensitive SNOMED CT core
3332028014 Telomeric deletion 5q en Synonym Active Case insensitive SNOMED CT core
3332030011 Monosomy 5q35 en Synonym Active Case insensitive SNOMED CT core
4565162011 Deletion 5q35 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
4565163018 Distal 5q deletion en Synonym Active Case insensitive SNOMED CT core
3332031010 Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly and significant cardiac defects. Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment. en Definition Active Case sensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion 5q35 Associated morphology Partial monosomy true Inferred relationship Some 2
Deletion 5q35 Finding site Long arm of chromosome true Inferred relationship Some 2
Deletion 5q35 Is a Anomaly of chromosome pair 5 false Inferred relationship Some
Deletion 5q35 Is a Deletion of part of autosome false Inferred relationship Some
Deletion 5q35 Associated morphology Deletion of long arm false Inferred relationship Some 2
Deletion 5q35 Occurrence Congenital true Inferred relationship Some 2
Deletion 5q35 Finding site Chromosome pair 5 false Inferred relationship Some 2
Deletion 5q35 Associated morphology Partial monosomy true Inferred relationship Some 3
Deletion 5q35 Occurrence Congenital true Inferred relationship Some 3
Deletion 5q35 Finding site Chromosome pair 5 true Inferred relationship Some 3
Deletion 5q35 Is a Deletion of part of long arm of chromosome 5 true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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