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70694009: Wolfram syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
117424010 Marquardt-Loriaux syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
117425011 DIDMOAD syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1233307015 Wolfram syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5247886017 Wolfram syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5247887014 DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, deafness) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5247900012 A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Two types of Wolfram syndrome may be distinguished: type 1 (WS1) and type 2 (WS2). Two causative genes have been identified: WFS1 (4p16.1) and CISD2 (4q24). The clinical criteria for Wolfram syndrome diagnosis are juvenile-onset diabetes mellitus and optic atrophy, family history of Wolfram syndrome or diabetes mellitus and deafness. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Wolfram syndrome Is a Diabetes insipidus false Inferred relationship Some
Wolfram syndrome Is a Optic atrophy false Inferred relationship Some
Wolfram syndrome Is a Multisystem disorder C-D (navigational concept) false Inferred relationship Some
Wolfram syndrome Is a Diabetes mellitus false Inferred relationship Some
Wolfram syndrome Associated morphology Atrophy false Inferred relationship Some 1
Wolfram syndrome Interprets Nutritional deficiency (finding) false Inferred relationship Some
Wolfram syndrome Finding site Endocrine pancreatic structure false Inferred relationship Some
Wolfram syndrome Finding site Neurohypophysis structure false Inferred relationship Some 2
Wolfram syndrome Finding site Entire endocrine gonad (body structure) false Inferred relationship Some
Wolfram syndrome Finding site Optic nerve structure false Inferred relationship Some 1
Wolfram syndrome Is a Multisystem disorder false Inferred relationship Some
Wolfram syndrome Finding site Structure of digestive system (body structure) false Inferred relationship Some
Wolfram syndrome Finding site Optic nerve structure false Inferred relationship Some 1
Wolfram syndrome Associated morphology Atrophy true Inferred relationship Some 1
Wolfram syndrome Is a Diabetes mellitus associated with genetic syndrome false Inferred relationship Some
Wolfram syndrome Associated with Genetic syndrome false Inferred relationship Some
Wolfram syndrome Associated with Genetic disease false Inferred relationship Some 3
Wolfram syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Wolfram syndrome Is a Optic atrophy of bilateral eyes (disorder) true Inferred relationship Some
Wolfram syndrome Is a Hereditary degenerative disease of central nervous system true Inferred relationship Some
Wolfram syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Wolfram syndrome Is a Sensorineural hearing loss true Inferred relationship Some
Wolfram syndrome Is a Inherited optic neuropathy true Inferred relationship Some
Wolfram syndrome Finding site Structure of left optic nerve (body structure) true Inferred relationship Some 1
Wolfram syndrome Finding site Structure of auditory system (body structure) true Inferred relationship Some 4
Wolfram syndrome Interprets Hearing true Inferred relationship Some 5
Wolfram syndrome Associated morphology Atrophy true Inferred relationship Some 6
Wolfram syndrome Finding site Structure of right optic nerve (body structure) true Inferred relationship Some 6
Wolfram syndrome Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Wolfram syndrome Is a Central nervous system complication false Inferred relationship Some
Wolfram syndrome Is a Decreased hearing (finding) true Inferred relationship Some
Wolfram syndrome Has interpretation Decreased true Inferred relationship Some 5
Wolfram syndrome Is a Type 1 diabetes mellitus true Inferred relationship Some
Wolfram syndrome Finding site Structure of endocrine system (body structure) true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group
Wolfram syndrome type 1 (disorder) Is a True Wolfram syndrome Inferred relationship Some
Wolfram syndrome type 2 Is a True Wolfram syndrome Inferred relationship Some

This concept is not in any reference sets

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