OMOP Concept 37165639
X-linked myotubular myopathy, abnormal genitalia syndrome
StandardConditionSNOMED1255278004Disorder
Maps from
1
Descendants
0
Valid from
31 Oct 2022
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to X-linked myotubular myopathy, abnormal genitalia syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C564561 | Myotubular Myopathy with Abnormal Genital Development | Non-standard |
Synonyms
Alternative names recorded for X-linked myotubular myopathy, abnormal genitalia syndrome across source vocabularies.
- síndrome de miopatía miotubular, anomalías genitales ligado al cromosoma X
- síndrome de miopatía miotubular, anomalías genitales ligado al cromosoma X (trastorno)
- X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
- Xq28 contiguous gene deletion syndrome
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(42)Roll up to these when you need a wider cohort.
- 146,XY disorder of sex development
- 1Anomaly of chromosome X
- 1Congenital anomaly of male urogenital tract
- 1Disorder of male reproductive system
- 1Genetic disease
- 1Myotubular myopathy
- 2Anomaly of sex chromosome
- 2Congenital anomaly of skeletal muscle
- 2Congenital malformation of genital organs
- 2Disease
- 2Disorder of pelvic region of trunk
- 2Disorder of reproductive system
- 2Genitourinary congenital anomalies
- 2Male genitalia finding
- 3Clinical finding
- 3Congenital anomaly of lower trunk
- 3Congenital anomaly of muscle AND/OR tendon
- 3Congenital chromosomal disease
- 3Disorder of abdominopelvic segment of trunk
- 3Disorder of skeletal muscle
- 3Disorder of the genitourinary system
- 3Finding of pelvic region of trunk
- 3Genital finding
- 4Chromosomal disorder
- 4Congenital abnormality of lower limb and pelvic girdle
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