WARS2-related combined oxidative phosphorylation defect 1260128008
SNOMED CT code
SNOMED code | 1260128008 |
---|---|
name | WARS2-related combined oxidative phosphorylation defect |
status | active |
date introduced | 2022-12-31 |
fully specified name(s) | Tryptophanyl tRNA synthetase 2, mitochondrial-related combined oxidative phosphorylation defect (disorder) |
synonyms |
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attributes - group3 | |
Occurrence | Congenital 255399007 |
attributes - group4 | |
Finding site | Nervous system structure 25087005 |
attributes - group5 | |
Pathological process | Pathological developmental process 308490002 |
attributes - group1 | |
Interprets | Intellectual ability 247573007 |
Has interpretation | Impaired 260379002 |
attributes - group2 | |
Interprets | Adaptation behavior 406208005 |
Has interpretation | Impaired 260379002 |
parents | |
hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 WARS2-related combined oxidative phosphorylation defect 1260128008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inherited metabolic disorder of nervous system 128190004 WARS2-related combined oxidative phosphorylation defect 1260128008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Mitochondrial cytopathy 240096000 WARS2-related combined oxidative phosphorylation defect 1260128008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 WARS2-related combined oxidative phosphorylation defect 1260128008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 WARS2-related combined oxidative phosphorylation defect 1260128008 |
ancestors | sorted most to least specific
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cpt crosswalks |
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