ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis 789657008
SNOMED CT code
| SNOMED code | 789657008 |
|---|---|
| name | ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis |
| status | active |
| date introduced | 2020-01-31 |
| fully specified name(s) | ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis (disorder) |
| synonyms |
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| attributes - group2 | |
| Finding site | Spinal cord structure 2748008 |
| Associated morphology | Degenerative abnormality 107669003 |
| Occurrence | Childhood 255398004 |
| attributes - group1 | |
| Occurrence | Childhood 255398004 |
| Finding site | Cerebellar structure 113305005 |
| Associated morphology | Degenerative abnormality 107669003 |
| attributes - group3 | |
| Finding site | Basal ganglion structure 32610002 |
| Associated morphology | Degenerative abnormality 107669003 |
| Occurrence | Childhood 255398004 |
| attributes - group4 | |
| Clinical course | Progressive 255314001 |
| attributes - group5 | |
| Occurrence | Congenital 255399007 |
| attributes - group7 | |
| Interprets | Movement 255324009 |
| Has interpretation | Slow 255361000 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic metabolic disorder 128289001 ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis 789657008 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of coordination 298314008 Ataxia 20262006 Hereditary ataxia 763597000 Spinocerebellar ataxia 129609000 ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis 789657008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disease of the central nervous system 80690008 Degenerative brain disorder 52522001 Cerebral degeneration 418143002 Cerebral degeneration in childhood 2584003 ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis 789657008 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of movement 298325004 Bradykinesia 399317006 Parkinsonism 32798002 ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis 789657008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Neuronal ceroid lipofuscinosis 42012007 ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis 789657008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic nervous system disorder 128283000 Chronic myelopathy 434371000124108 ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis 789657008 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of coordination 298314008 Ataxia 20262006 Acquired ataxia 722968003 ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis 789657008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic nervous system disorder 128283000 Chronic brain syndrome 78689005 ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis 789657008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis 789657008 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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