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734022008: syndrome de Wolfram-like (trouble)


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

Descriptions:

Id Description Lang Type Status Case? Module
3481936019 Wolfram-like syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3481937011 Wolfram-like syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
763561000241118 syndrome de Wolfram-like (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
890251000172119 syndrome de Wolfram-like fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3481938018 A rare endocrine disease with characteristics of the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. There is evidence this disease is caused by heterozygous mutation in the WFS1 gene on chromosome 4p16. 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
Wolfram-like syndrome (disorder) Due to Genetic disease true Inferred relationship Some 4
Wolfram-like syndrome (disorder) est un(e) (attribut) affection de l'oreille true Inferred relationship Some
Wolfram-like syndrome (disorder) est un(e) (attribut) Congenital hearing disorder true Inferred relationship Some
Wolfram-like syndrome (disorder) interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 2
Wolfram-like syndrome (disorder) est un(e) (attribut) complication liée au système nerveux central true Inferred relationship Some
Wolfram-like syndrome (disorder) Due to syndrome génétique false Inferred relationship Some
Wolfram-like syndrome (disorder) est un(e) (attribut) Diabetes mellitus associated with genetic syndrome true Inferred relationship Some
Wolfram-like syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Wolfram-like syndrome (disorder) est un(e) (attribut) Hereditary optic atrophy true Inferred relationship Some
Wolfram-like syndrome (disorder) est un(e) (attribut) Hearing loss associated with syndrome true Inferred relationship Some
Wolfram-like syndrome (disorder) est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Wolfram-like syndrome (disorder) est un(e) (attribut) Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Wolfram-like syndrome (disorder) est un(e) (attribut) Congenital atrophy of optic nerve (disorder) true Inferred relationship Some
Wolfram-like syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Wolfram-like syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 6
Wolfram-like syndrome (disorder) localisation d'une constatation (attribut) oreille true Inferred relationship Some 6
Wolfram-like syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 7
Wolfram-like syndrome (disorder) localisation d'une constatation (attribut) Structure of endocrine system (body structure) true Inferred relationship Some 5
Wolfram-like syndrome (disorder) morphologie associée (attribut) Primary atrophy true Inferred relationship Some 7
Wolfram-like syndrome (disorder) localisation d'une constatation (attribut) Optic nerve structure true Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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