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734022008: Wolfram-like syndrome (disorder)


Status: current, Primitive. 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 Case sensitive SNOMED CT core
3481937011 Wolfram-like syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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