Muscle eye brain disease with bilateral multicystic leukodystrophy 785298001
SNOMED CT code
| SNOMED code | 785298001 |
|---|---|
| name | Muscle eye brain disease with bilateral multicystic leukodystrophy |
| status | active |
| date introduced | 2019-07-31 |
| fully specified name(s) | Muscle eye brain disease with bilateral multicystic leukodystrophy (disorder) |
| synonyms |
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| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Skeletal muscle structure 127954009 |
| Associated morphology | Dystrophy 4720007 |
| attributes - group4 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Brain structure 12738006 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| attributes - group3 | |
| Associated morphology | Dystrophy 4720007 |
| Finding site | White matter structure of brain and spinal cord 389080008 |
| attributes - group1 | |
| Finding site | Myelinated nerve fiber structure 54115001 |
| Associated morphology | Myelin sheath alteration 125495003 |
| attributes - group5 | |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Eye structure 81745001 |
| Occurrence | Congenital 255399007 |
| attributes - group6 | |
| Clinical course | Progressive 255314001 |
| attributes - group7 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group8 | |
| 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 Disease 64572001 Degenerative disorder 362975008 Degenerative disease of the central nervous system 80690008 Hereditary degenerative disease of central nervous system 106018006 Muscle eye brain disease with bilateral multicystic leukodystrophy 785298001 SNOMED CT Concept 138875005 Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 Muscle eye brain disease with bilateral multicystic leukodystrophy 785298001 SNOMED CT Concept 138875005 Clinical finding 404684003 Muscle finding 106030000 Disorder of muscle 129565002 Disorder of skeletal muscle 75047002 Congenital anomaly of skeletal muscle 89886004 Congenital hereditary muscular dystrophy 111501005 Muscle eye brain disease with bilateral multicystic leukodystrophy 785298001 SNOMED CT Concept 138875005 Clinical finding 404684003 Neurological lesion 299735001 Leukodystrophy 192781003 Muscle eye brain disease with bilateral multicystic leukodystrophy 785298001 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Congenital anomaly of visual system 127329003 Congenital anomaly of eye 19416009 Muscle eye brain disease with bilateral multicystic leukodystrophy 785298001 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Disorder of the central nervous system 23853001 Congenital anomaly of central nervous system 128124001 Combined malformation of central nervous system and skeletal muscle 277949001 Muscle eye brain disease with bilateral multicystic leukodystrophy 785298001 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Muscle eye brain disease with bilateral multicystic leukodystrophy 785298001 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Disorder of the central nervous system 23853001 Congenital anomaly of central nervous system 128124001 Congenital anomaly of brain 57148006 Muscle eye brain disease with bilateral multicystic leukodystrophy 785298001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic nervous system disorder 128283000 Chronic brain syndrome 78689005 Muscle eye brain disease with bilateral multicystic leukodystrophy 785298001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Muscle eye brain disease with bilateral multicystic leukodystrophy 785298001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Muscle eye brain disease with bilateral multicystic leukodystrophy 785298001 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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