Megaconial congenital muscular dystrophy 1230273004
SNOMED CT code
| SNOMED code | 1230273004 |
|---|---|
| name | Megaconial congenital muscular dystrophy |
| status | active |
| date introduced | 2022-06-30 |
| fully specified name(s) | Megaconial congenital muscular dystrophy (disorder) |
| synonyms |
|
| attributes - group4 | |
| Clinical course | Progressive 255314001 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Skeletal muscle structure 127954009 |
| Associated morphology | Mitochondrial enlargement 125429001 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Skeletal muscle structure 127954009 |
| Associated morphology | Dystrophy 4720007 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Nervous system structure 25087005 |
| attributes - group5 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group6 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| 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 Megaconial congenital muscular dystrophy 1230273004 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 Megaconial congenital muscular dystrophy 1230273004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inherited metabolic disorder of nervous system 128190004 Megaconial congenital muscular dystrophy 1230273004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic nervous system disorder 128283000 Megaconial congenital muscular dystrophy 1230273004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic metabolic disorder 128289001 Megaconial congenital muscular dystrophy 1230273004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Global developmental delay 224958001 Megaconial congenital muscular dystrophy 1230273004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Disorder of lipoprotein AND/OR lipid metabolism 48286001 Disorder of lipid metabolism 267431006 Megaconial congenital muscular dystrophy 1230273004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Megaconial congenital muscular dystrophy 1230273004 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
Thank you for choosing Find-A-Code, please Sign In to remove ads.
Quick, Current, Complete - www.findacode.com