POGLUT1-related limb girdle muscular dystrophy R21 1172703004
SNOMED CT code
| SNOMED code | 1172703004 |
|---|---|
| name | POGLUT1-related limb girdle muscular dystrophy R21 |
| status | active |
| date introduced | 2021-09-30 |
| fully specified name(s) | Protein O-glucosyltransferase 1-related limb girdle muscular dystrophy R21 (disorder) |
| synonyms |
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| attributes - group3 | |
| Clinical course | Progressive 255314001 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| attributes - group1 | |
| Occurrence | Adulthood 41847000 |
| Finding site | Skeletal muscle structure 127954009 |
| Associated morphology | Dystrophy 4720007 |
| Pathological process | Pathological developmental process 308490002 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic metabolic disorder 128289001 POGLUT1-related limb girdle muscular dystrophy R21 1172703004 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 POGLUT1-related limb girdle muscular dystrophy R21 1172703004 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 muscular dystrophy with limb girdle distribution 240054004 POGLUT1-related limb girdle muscular dystrophy R21 1172703004 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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