X-linked myotubular myopathy, abnormal genitalia syndrome 1255278004
SNOMED CT code
| SNOMED code | 1255278004 |
|---|---|
| name | X-linked myotubular myopathy, abnormal genitalia syndrome |
| status | active |
| date introduced | 2022-10-31 |
| fully specified name(s) | X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) |
| synonyms |
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| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Skeletal muscle structure 127954009 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Male genital structure 90264002 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Long arm of chromosome 312242007 |
| Associated morphology | Partial deletion 737544004 |
| attributes - group4 | |
| Occurrence | Congenital 255399007 |
| Finding site | Sex chromosome X 72837006 |
| Associated morphology | Partial deletion 737544004 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Chromosomal disorder 409709004 Congenital chromosomal disease 74345006 Anomaly of chromosome pair 362984008 Anomaly of sex chromosome 95462004 Anomaly of chromosome X 111312006 X-linked myotubular myopathy, abnormal genitalia syndrome 1255278004 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of trunk structure 302292003 Finding of abdominopelvic segment of trunk 822987005 Finding of pelvic region of trunk 609625009 Disorder of pelvic region of trunk 609619005 Disorder of male reproductive system 363194005 X-linked myotubular myopathy, abnormal genitalia syndrome 1255278004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of the genitourinary system 42030000 Genitourinary congenital anomalies 287085006 Congenital anomaly of male urogenital tract 428522008 X-linked myotubular myopathy, abnormal genitalia syndrome 1255278004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 X-linked myotubular myopathy, abnormal genitalia syndrome 1255278004 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 Myotubular myopathy 82077006 X-linked myotubular myopathy, abnormal genitalia syndrome 1255278004 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of trunk structure 302292003 Finding of abdominopelvic segment of trunk 822987005 Urogenital finding 118238000 Genital finding 300479008 Congenital malformation of genital organs 204821009 46,XY disorder of sex development 880094008 X-linked myotubular myopathy, abnormal genitalia syndrome 1255278004 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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