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734022008: Wolfram-like syndrome (disorder)


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
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 syndrome false Inferred relationship Some
Wolfram-like syndrome (disorder) Is a Diabetes mellitus associated with genetic syndrome true Inferred relationship Some
Wolfram-like syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Wolfram-like syndrome (disorder) Is a Hereditary optic atrophy true Inferred relationship Some
Wolfram-like syndrome (disorder) Is a Hearing loss associated with syndrome true Inferred relationship Some
Wolfram-like syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
Wolfram-like syndrome (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Wolfram-like syndrome (disorder) Is a Congenital atrophy of optic nerve (disorder) true Inferred relationship Some
Wolfram-like syndrome (disorder) Occurrence Congenital true Inferred relationship Some 5
Wolfram-like syndrome (disorder) Occurrence Congenital true Inferred relationship Some 6
Wolfram-like syndrome (disorder) Finding site Ear structure true Inferred relationship Some 6
Wolfram-like syndrome (disorder) Occurrence Congenital true Inferred relationship Some 7
Wolfram-like syndrome (disorder) Finding site Structure of endocrine system (body structure) true Inferred relationship Some 5
Wolfram-like syndrome (disorder) Associated morphology Primary atrophy true Inferred relationship Some 7
Wolfram-like syndrome (disorder) Finding site Optic nerve structure true Inferred relationship Some 7
Wolfram-like syndrome (disorder) Due to Genetic disease true Inferred relationship Some 4
Wolfram-like syndrome (disorder) Is a Disorder of ear true Inferred relationship Some
Wolfram-like syndrome (disorder) Is a Congenital hearing disorder true Inferred relationship Some
Wolfram-like syndrome (disorder) Interprets Hearing true Inferred relationship Some 2
Wolfram-like syndrome (disorder) Is a Central nervous system complication true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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