Neonatal epileptic encephalopathy due to glutaminase deficiency 1222662000
SNOMED CT code
| SNOMED code | 1222662000 |
|---|---|
| name | Neonatal epileptic encephalopathy due to glutaminase deficiency |
| status | active |
| date introduced | 2022-05-31 |
| fully specified name(s) | Neonatal epileptic encephalopathy due to deficiency of glutaminase (disorder) |
| synonyms |
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| attributes - group2 | |
| Due to | Deficiency of glutaminase 124507006 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| attributes - group1 | |
| Occurrence | Neonatal 255407002 |
| Finding site | Brain structure 12738006 |
| Pathological process | Pathological developmental process 308490002 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Neurodevelopmental disorder 700364009 Developmental and epileptic encephalopathy 1275631007 Neonatal epileptic encephalopathy due to glutaminase deficiency 1222662000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inherited metabolic disorder of nervous system 128190004 Neonatal epileptic encephalopathy due to glutaminase deficiency 1222662000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Disorder of organic acid metabolism 116021002 Disorder of amino acid metabolism 44779003 Disorder of amino acid and organic acid metabolism 237911005 Disturbance of glutamine metabolism 190724004 Neonatal epileptic encephalopathy due to glutaminase deficiency 1222662000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Neonatal epileptic encephalopathy due to glutaminase deficiency 1222662000 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of neonate 118188004 Neonatal disease 22925008 Neonatal metabolic disorder 736652002 Neonatal epileptic encephalopathy due to glutaminase deficiency 1222662000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Neonatal epileptic encephalopathy due to glutaminase deficiency 1222662000 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Disorder of the central nervous system 23853001 Central nervous system complication 87536007 Neonatal epileptic encephalopathy due to glutaminase deficiency 1222662000 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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