Spastic ataxia, dysarthria due to glutaminase deficiency 1255323007
SNOMED CT code
SNOMED code | 1255323007 |
---|---|
name | Spastic ataxia, dysarthria due to glutaminase deficiency |
status | active |
date introduced | 2022-10-31 |
fully specified name(s) | Spastic ataxia, dysarthria due to glutaminase deficiency (disorder) |
synonyms | Spastic ataxia, dysarthria due to glutaminase deficiency |
attributes - group2 | |
Clinical course | Progressive 255314001 |
attributes - group5 | |
Due to | Deficiency of glutaminase 124507006 |
attributes - group1 | |
Occurrence | Congenital 255399007 |
attributes - group3 | |
Finding site | Nervous system structure 25087005 |
attributes - group4 | |
Pathological process | Pathological developmental process 308490002 |
parents | |
hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inherited metabolic disorder of nervous system 128190004 Spastic ataxia, dysarthria due to glutaminase deficiency 1255323007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic nervous system disorder 128283000 Spastic ataxia, dysarthria due to glutaminase deficiency 1255323007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic metabolic disorder 128289001 Spastic ataxia, dysarthria due to glutaminase deficiency 1255323007 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 Spastic ataxia, dysarthria due to glutaminase deficiency 1255323007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Global developmental delay 224958001 Spastic ataxia, dysarthria due to glutaminase deficiency 1255323007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Spastic ataxia, dysarthria due to glutaminase deficiency 1255323007 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of coordination 298314008 Ataxia 20262006 Hereditary ataxia 763597000 Spastic ataxia, dysarthria due to glutaminase deficiency 1255323007 |
ancestors | sorted most to least specific
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cpt crosswalks |
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