FASTKD2-related infantile mitochondrial encephalomyopathy 778029000
SNOMED CT code
| SNOMED code | 778029000 |
|---|---|
| name | FASTKD2-related infantile mitochondrial encephalomyopathy |
| status | active |
| date introduced | 2019-01-31 |
| fully specified name(s) | FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) |
| synonyms |
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| attributes - group2 | |
| Finding site | Brain structure 12738006 |
| Occurrence | Infancy 3658006 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group1 | |
| Occurrence | Infancy 3658006 |
| Finding site | Skeletal muscle structure 127954009 |
| parents | |
| 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 FASTKD2-related infantile mitochondrial encephalomyopathy 778029000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 FASTKD2-related infantile mitochondrial encephalomyopathy 778029000 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 FASTKD2-related infantile mitochondrial encephalomyopathy 778029000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of nervous system 118940003 Hereditary disorder of nervous system 363235000 FASTKD2-related infantile mitochondrial encephalomyopathy 778029000 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Finding of brain 299718000 Disorder of brain 81308009 Mitochondrial encephalomyopathy 447292006 FASTKD2-related infantile mitochondrial encephalomyopathy 778029000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 FASTKD2-related infantile mitochondrial encephalomyopathy 778029000 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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