Application Version: 4.0.6.10
Content Version: 2024.07.12
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Code System Concept
Code System Concept Code | 722449007 |
Code System Concept Name | Gingival fibromatosis with progressive deafness syndrome (disorder) |
Code System Preferred Concept Name | Gingival fibromatosis with progressive deafness syndrome (disorder) |
Concept Status | Published |
Concept Status Date | 09/01/2024 |
Code System Name | SNOMED-CT |
Concept Details
Code System Code | PH_SNOMED-CT |
Code System OID | 2.16.840.1.113883.6.96 |
HL7 Table 0396 Code | SCT |
Superseded By Concept | |
SDO Concept Status | Active |
SDO Concept Status Date | 01/31/2017 |
SDO Date Created | 01/31/2017 |
SDO Date Revised | 01/31/2017 |
Description | 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. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3332183018 | Gingival fibromatosis with progressive deafness syndrome | Active | Synonym | false | false |
3332184012 | Jones syndrome | Active | Synonym | false | false |
Parent Concepts
Parent Concepts
Parent/Child (Relationship Type)
Auditory system hereditary disorder (disorder)
{362991006
, SNOMED-CT
}
Autosomal dominant hereditary disorder (disorder)
{11164009
, SNOMED-CT
}
Hearing loss associated with syndrome (disorder)
{232333009
, SNOMED-CT
}
Hereditary gingival fibromatosis (disorder)
{109620006
, SNOMED-CT
}
Sensorineural hearing loss (disorder)
{60700002
, SNOMED-CT
}
|
Other Relationships
No other relationships present.
|
Child Concepts
No child concepts present.
|
- Page last reviewed:June 20, 2024
- Page last updated:June 20, 2024
- Content source: