Congenital muscular dystrophy with intellectual disability and severe epilepsy 782772000
SNOMED CT code
| SNOMED code | 782772000 |
|---|---|
| name | Congenital muscular dystrophy with intellectual disability and severe epilepsy |
| status | active |
| date introduced | 2019-07-31 |
| fully specified name(s) | Congenital muscular dystrophy with intellectual disability and severe epilepsy (disorder) |
| synonyms |
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| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Associated morphology | Dystrophy 4720007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Skeletal muscle structure 127954009 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Cerebrum 83678007 |
| attributes - group3 | |
| Clinical course | Progressive 255314001 |
| attributes - group4 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group5 | |
| 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 Congenital muscular dystrophy with intellectual disability and severe epilepsy 782772000 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 Congenital muscular dystrophy with intellectual disability and severe epilepsy 782772000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inherited metabolic disorder of nervous system 128190004 Congenital muscular dystrophy with intellectual disability and severe epilepsy 782772000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic metabolic disorder 128289001 Congenital muscular dystrophy with intellectual disability and severe epilepsy 782772000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Disorder of glycoprotein metabolism 238045003 Carbohydrate-deficient glycoprotein syndrome 238049009 Carbohydrate-deficient glycoprotein syndrome type I 277893002 Congenital muscular dystrophy with intellectual disability and severe epilepsy 782772000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic nervous system disorder 128283000 Chronic brain syndrome 78689005 Congenital muscular dystrophy with intellectual disability and severe epilepsy 782772000 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Finding of brain 299718000 Seizure 91175000 Seizure disorder 128613002 Epilepsy 84757009 Congenital muscular dystrophy with intellectual disability and severe epilepsy 782772000 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Congenital muscular dystrophy with intellectual disability and severe epilepsy 782772000 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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