Application Version: 4.0.6.9
Content Version: 2024.01.20
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Code System Update Calendar [PDF161KB]
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Code System Concept
Code System Concept Code | 721297008 |
Code System Concept Name | Galloway Mowat syndrome (disorder) |
Code System Preferred Concept Name | Galloway Mowat syndrome (disorder) |
Concept Status | Published |
Concept Status Date | 03/01/2024 |
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Superseded By Concept | |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 | The association of nephrotic syndrome with central nervous system anomalies. Approximately 40 cases have been reported since it was first described in 1968 in two siblings with early-onset nephrotic syndrome, microcephaly and hiatus hernia. Renal biopsy may show minimal glomerular lesions, mesangial proliferation, focal segmental hyalinosis or diffuse mesangial sclerosis. Neurological symptoms include microcephaly, psychomotor retardation, convulsions, hypotonia, abnormal cerebral gyri and sulci, cortical atrophy, hydrocephalus due to aqueductal stenosis, porencephaly or encephalomalacia. Histological analyses reveal anomalies of neuron migration. Facial dysmorphology and large ears have been reported as well as hiatus hernia, which is responsible for vomiting after the first feed. There is evidence that this syndrome is caused by homozygous mutation in the WDR73 gene (616144) on chromosome 15q25. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
3326230010 | Galloway Mowat syndrome | Active | Synonym | false | false |
3326231014 | Galloway syndrome | Active | Synonym | false | false |
3326232019 | Microcephaly, hiatus hernia, nephrotic syndrome | Active | Synonym | false | false |
3332175012 | Nephrosis, neuronal dysmigration syndrome | Active | Synonym | false | false |
Parent Concepts
No parent concepts present.
|
Other Relationships
No other relationships present.
|
Child Concepts
No child concepts present.
|
Application Version: 4.0.6.9
Content Version: 2024.01.20
Release Notes [PDF285KB]
User Guide [PDF6.08MB]
Code System Update Calendar [PDF161KB]
Contact Us
Subscribe
Related Links
- PHIN Vocabulary Services
- Quick Links / Mapping Tools
- External Standards Resources
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- Page last reviewed:December 5, 2018
- Page last updated:December 5, 2018
- Content source: