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715633008: syndrome de Werner atypique (trouble)


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
3303243012 Atypical Werner syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303244018 Atypical Werner syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303245017 Atypical progeroid syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
748101000241112 syndrome de Werner atypique (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
922111000172111 syndrome de Werner atypique fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
996511000172114 progéria atypique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Atypical Werner syndrome (disorder) est un(e) (attribut) Laminopathy with premature aging (disorder) true Inferred relationship Some
Atypical Werner syndrome (disorder) est un(e) (attribut) Premature aging syndrome (disorder) false Inferred relationship Some
Atypical Werner syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Atypical Werner syndrome (disorder) localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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