Application Version: 4.0.6.10
Content Version: 2024.07.12
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Code System Concept
Code System Concept Code | 783157004 |
Code System Concept Name | Leigh syndrome with nephrotic syndrome (disorder) |
Code System Preferred Concept Name | Leigh syndrome with nephrotic 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Superseded By Concept | |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 | Inactive |
SDO Concept Status Date | 07/31/2019 |
SDO Date Created | 07/31/2019 |
SDO Date Revised | 07/31/2023 |
Description | A rare genetic neurometabolic disease with characteristics of encephalomyopathy (including developmental delay, nystagmus, progressive ataxia, dystonia, amyotrophy, visual loss, sensorineural deafness, seizures) and bilateral symmetrical lesions in the basal ganglia or brainstem on imaging, associated with nephrotic syndrome. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3757873011 | Infantile subacute necrotizing encephalopathy with nephrotic syndrome | Active | Synonym | false | false |
3757874017 | Leigh disease with nephrotic syndrome | Active | Synonym | false | false |
3757875016 | Infantile subacute necrotising encephalopathy with nephrotic syndrome | Active | Synonym | false | false |
3757876015 | Leigh syndrome with nephrotic syndrome | Active | Synonym | false | false |
Parent Concepts
Parent Concepts
Parent/Child (Relationship Type)
Autosomal recessive hereditary disorder (disorder)
{85995004
, SNOMED-CT
}
Hereditary disorder of musculoskeletal system (disorder)
{363212003
, SNOMED-CT
}
Hereditary nephropathy (disorder)
{367591000119105
, SNOMED-CT
}
Leigh's disease (disorder)
{29570005
, SNOMED-CT
}
Metabolic renal disease (disorder)
{106000008
, SNOMED-CT
}
Mitochondrial encephalomyopathy (disorder)
{447292006
, SNOMED-CT
}
Nephrotic syndrome (disorder)
{52254009
, 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: