Application Version: 4.0.6.10
Content Version: 2024.07.12
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Code System Concept
Code System Concept Code | 783614008 |
Code System Concept Name | Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder) |
Code System Preferred Concept Name | Familial steroid-resistant nephrotic syndrome with sensorineural deafness (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Superseded By Concept | |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 | 07/31/2019 |
SDO Date Created | 07/31/2019 |
SDO Date Revised | 07/31/2019 |
Description | A rare genetic coenzyme Q10 deficiency with characteristics of sensorineural deafness and severe progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminemia and edema, leading to end-stage renal disease. Renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely seizures, ataxia and dysmorphic features have been described. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3759504015 | Familial steroid-resistant nephrotic syndrome with sensorineural deafness | Active | Synonym | false | false |
Parent Concepts
Parent Concepts
Parent/Child (Relationship Type)
Auditory system hereditary disorder (disorder)
{362991006
, SNOMED-CT
}
Autosomal recessive hereditary disorder (disorder)
{85995004
, SNOMED-CT
}
Hereditary nephropathy (disorder)
{367591000119105
, SNOMED-CT
}
Sensorineural hearing loss (disorder)
{60700002
, SNOMED-CT
}
Steroid-resistant nephrotic syndrome (disorder)
{236381000
, 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: