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722449007: Gingival fibromatosis with progressive deafness syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3332182011 Gingival fibromatosis with progressive deafness syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3332183018 Gingival fibromatosis with progressive deafness syndrome en Synonym Active Case insensitive SNOMED CT core
3332184012 Jones syndrome en Synonym Active Case sensitive SNOMED CT core
3332185013 This syndrome has characteristics of gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Gingival fibromatosis with progressive deafness syndrome Finding site Structure of auditory system true Inferred relationship Some 2
Gingival fibromatosis with progressive deafness syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Gingival fibromatosis with progressive deafness syndrome Is a Sensorineural hearing loss true Inferred relationship Some
Gingival fibromatosis with progressive deafness syndrome Is a Hereditary gingival fibromatosis true Inferred relationship Some
Gingival fibromatosis with progressive deafness syndrome Is a Hearing loss associated with syndrome true Inferred relationship Some
Gingival fibromatosis with progressive deafness syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Gingival fibromatosis with progressive deafness syndrome Finding site Ear structure false Inferred relationship Some 2
Gingival fibromatosis with progressive deafness syndrome Interprets Hearing true Inferred relationship Some 3
Gingival fibromatosis with progressive deafness syndrome Interprets Functional observable false Inferred relationship Some
Gingival fibromatosis with progressive deafness syndrome Associated morphology Fibromatosis true Inferred relationship Some 4
Gingival fibromatosis with progressive deafness syndrome Finding site Gingival structure true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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