Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome 771476007
SNOMED CT code
| SNOMED code | 771476007 |
|---|---|
| name | Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome |
| status | active |
| date introduced | 2019-01-31 |
| fully specified name(s) | Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) |
| synonyms |
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| attributes - group1 | |
| Finding site | Cerebrovascular system structure 28661005 |
| Occurrence | Congenital 255399007 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Cerebral white matter structure 68523003 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Retinal structure 5665001 |
| Associated morphology | Dystrophy 4720007 |
| attributes - group5 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Finding site | Face structure 89545001 |
| attributes - group6 | |
| Finding site | Vascular structure 59820001 |
| attributes - group4 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group7 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| parents |
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| 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 Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome 771476007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Global developmental delay 224958001 Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome 771476007 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of head and neck region 118254002 Head finding 406122000 Finding of head region 298364001 Leukoencephalopathy 22811006 Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome 771476007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Autosomal recessive retinitis pigmentosa 232053004 Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome 771476007 SNOMED CT Concept 138875005 Clinical finding 404684003 Cardiovascular finding 106063007 Perfusion finding 371863001 Ischemia 52674009 Cerebral ischemia 287731003 Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome 771476007 SNOMED CT Concept 138875005 Clinical finding 404684003 Cardiovascular finding 106063007 Disorder of cardiovascular system 49601007 Cardiovascular system hereditary disorder 363005004 Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome 771476007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome 771476007 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 Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome 771476007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of head 118934005 Disorder of face 118930001 Congenital anomaly of face 398302004 Multiple malformation syndrome with facial defects as major feature 65094009 Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome 771476007 SNOMED CT Concept 138875005 Clinical finding 404684003 Cardiovascular finding 106063007 Disorder of cardiovascular system 49601007 Congenital cardiovascular disorder 762228008 Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome 771476007 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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