| 'protein O-glucosyltransferase 1'-gerelateerde 'limb-girdle'-spierdystrofie R21 (aandoening) | | POGLUT1-gerelateerde 'limb-girdle'-spierdystrofie R21 | | 'protein O-glucosyltransferase 1'-gerelateerde 'limb-girdle'-spierdystrofie R21
LGMD2Z
autosomaal recessieve gordeldystrofie type 2Z
| | POGLUT1-related limb girdle muscular dystrophy R21 | | Autosomal recessive limb girdle muscular dystrophy type 2Z
Protein O-glucosyltransferase 1-related limb girdle muscular dystrophy R21
Limb girdle muscular dystrophy type 2Z
| | A rare autosomal recessive limb-girdle muscular dystrophy with characteristics of adult onset of progressive muscle weakness and atrophy in the proximal upper and lower limbs, leading to scapular winging and loss of independent ambulation. Respiratory function may become impaired in the course of the disease. Fatty degeneration of internal regions of thigh muscles sparing external areas has been reported, as well as a reduction of alpha-dystroglycan in muscle biopsies. |
| | Id | 1172703004 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 480682 |
| SNOMED CT to ICD-10 extended map | | Target | G71.0 | | Rule | TRUE | | Advice | ALWAYS G71.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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