Severe oculo-renal-cerebellar syndrome 1208341008
SNOMED CT code
| SNOMED code | 1208341008 |
|---|---|
| name | Severe oculo-renal-cerebellar syndrome |
| status | active |
| date introduced | 2022-03-31 |
| fully specified name(s) | Severe oculo-renal-cerebellar syndrome (disorder) |
| synonyms |
|
| attributes - group4 | |
| Clinical course | Progressive 255314001 |
| attributes - group5 | |
| Finding site | Basal ganglion structure 32610002 |
| attributes - group7 | |
| Finding site | Glomerulus structure 68288006 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Finding site | Retinal structure 5665001 |
| Associated morphology | Degenerative abnormality 107669003 |
| attributes - group1 | |
| Finding site | Cerebellar structure 113305005 |
| attributes - group9 | |
| Has interpretation | Impaired 260379002 |
| Interprets | Intellectual ability 247573007 |
| attributes - group6 | |
| Finding site | Skeletal muscle structure of limb 713515006 |
| attributes - group11 | |
| Has interpretation | Impaired 260379002 |
| Interprets | Adaptation behavior 406208005 |
| attributes - group12 | |
| Interprets | Muscle tone 6918002 |
| Has interpretation | Increased 35105006 |
| attributes - group10 | |
| Interprets | Movement observable 363847004 |
| Has interpretation | Absent 2667000 |
| attributes - group8 | |
| Has interpretation | Abnormal 263654008 |
| Interprets | Movement observable 363847004 |
| attributes - group13 | |
| Interprets | Movement 255324009 |
| 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 Severe oculo-renal-cerebellar syndrome 1208341008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic disease of musculoskeletal system 128237006 Severe oculo-renal-cerebellar syndrome 1208341008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic disease of genitourinary system 128290005 Severe oculo-renal-cerebellar syndrome 1208341008 SNOMED CT Concept 138875005 Clinical finding 404684003 Viscus structure finding 406123005 Abdominal organ finding 249561001 Kidney finding 249578005 Kidney disease 90708001 Disorder of renal parenchyma 767094002 Glomerular disease 197679002 Severe oculo-renal-cerebellar syndrome 1208341008 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Finding of brain 299718000 Disorder of brain 81308009 Cerebellar disorder 223176004 Severe oculo-renal-cerebellar syndrome 1208341008 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Diplegia 6481005 Spastic diplegia 281411007 Severe oculo-renal-cerebellar syndrome 1208341008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Severe oculo-renal-cerebellar syndrome 1208341008 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Severe oculo-renal-cerebellar syndrome 1208341008 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 Severe oculo-renal-cerebellar syndrome 1208341008 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Severe oculo-renal-cerebellar syndrome 1208341008 SNOMED CT Concept 138875005 Clinical finding 404684003 Viscus structure finding 406123005 Abdominal organ finding 249561001 Kidney finding 249578005 Kidney disease 90708001 Hereditary nephropathy 367591000119105 Severe oculo-renal-cerebellar syndrome 1208341008 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of movement 298325004 Involuntary movement 267078001 Chorea 271700006 Choreoathetosis 43105007 Severe oculo-renal-cerebellar syndrome 1208341008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic nervous system disorder 128283000 Chronic brain syndrome 78689005 Severe oculo-renal-cerebellar syndrome 1208341008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Severe oculo-renal-cerebellar syndrome 1208341008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Severe oculo-renal-cerebellar syndrome 1208341008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disorder of eye 62585004 Degeneration of retina 95695004 Severe oculo-renal-cerebellar syndrome 1208341008 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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