Limb girdle muscular dystrophy due to POMK deficiency 1234819007
SNOMED CT code
| SNOMED code | 1234819007 |
|---|---|
| name | Limb girdle muscular dystrophy due to POMK deficiency |
| status | active |
| date introduced | 2022-07-31 |
| fully specified name(s) | Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency (disorder) |
| synonyms |
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| attributes - group3 | |
| Clinical course | Progressive 255314001 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| attributes - group4 | |
| Finding site | Nervous system structure 25087005 |
| attributes - group1 | |
| Finding site | Skeletal muscle structure 127954009 |
| Associated morphology | Dystrophy 4720007 |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Infancy 3658006 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inherited metabolic disorder of nervous system 128190004 Limb girdle muscular dystrophy due to POMK deficiency 1234819007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic nervous system disorder 128283000 Limb girdle muscular dystrophy due to POMK deficiency 1234819007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic metabolic disorder 128289001 Limb girdle muscular dystrophy due to POMK deficiency 1234819007 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 Limb girdle muscular dystrophy due to POMK deficiency 1234819007 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 Limb girdle muscular dystrophy due to POMK deficiency 1234819007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Limb girdle muscular dystrophy due to POMK deficiency 1234819007 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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