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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
5403867013 Wolfram-like syndrome is a rare endocrine disease characterized by 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. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403868015 Wolfram-like syndrome is a rare endocrine disease characterised by 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. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5403867013 Wolfram-like syndrome is a rare endocrine disease characterized by 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. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403868015 Wolfram-like syndrome is a rare endocrine disease characterised by 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. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3420741001000115 Wolfram-ähnliches Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
890251000172119 syndrome de Wolfram-like fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
890251000172119 syndrome de Wolfram-like fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3420741001000115 Wolfram-ähnliches Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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