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715633008: Atypical Werner syndrome (disorder)


Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3303243012 Atypical Werner syndrome (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
3303244018 Atypical Werner syndrome en Synonym Active Initial character case insensitive SNOMED CT core
3303245017 Atypical progeroid syndrome en Synonym Active Case insensitive SNOMED CT core
3303246016 Refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome but that do not carry WRN gene mutations. Similar to classical Werner Syndrome caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population. Compared to Werner Syndrome, it has an earlier age of onset (early 20s or earlier) and a more rapid rate of progression. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Atypical Werner syndrome Is a Laminopathy with premature ageing true Inferred relationship Some
Atypical Werner syndrome Is a Premature ageing syndrome false Inferred relationship Some
Atypical Werner syndrome Occurrence Congenital true Inferred relationship Some 1
Atypical Werner syndrome Finding site Skin structure true Inferred relationship Some 2

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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