OMOP Concept 78149
Congenital hereditary muscular dystrophy
StandardConditionSNOMED111501005Disorder
Maps from
3
Descendants
51
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
3 source codes normalize to Congenital hereditary muscular dystrophy via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 143933 | Congenital hereditary muscular dystrophy | Non-standard |
| ICD9CM | 359.0 | Congenital hereditary muscular dystrophy | Non-standard |
| Read | F390.00 | Congenital hereditary muscular dystrophy | Non-standard |
Synonyms
Alternative names recorded for Congenital hereditary muscular dystrophy across source vocabularies.
- Benign congenital myopathy (SNOMED Veterinary)
- Congenital hereditary muscular dystrophy (disorder)
- distrofia muscular hereditaria congénita
- distrofia muscular hereditaria congénita (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(29)Roll up to these when you need a wider cohort.
- 1Congenital anomaly of skeletal muscle
- 1Hereditary progressive muscular dystrophy
- 2Congenital anomaly of muscle AND/OR tendon
- 2Developmental hereditary disorder
- 2Disorder of skeletal muscle
- 2Hereditary disorder of musculoskeletal system
- 2Muscular dystrophy
- 3Chronic disease of musculoskeletal system
- 3Congenital anomaly of musculoskeletal system
- 3Degenerative disorder of muscle
- 3Degenerative disorder of musculoskeletal system
- 3Developmental disorder
- 3Disorder of muscle
- 3Disorder of musculoskeletal system
- 3Disorder of soft tissue
- 3Genetic disease
- 3Hereditary disease
- 3Hereditary disorder by system
- 4Chronic disease
- 4Congenital malformation
- 4Degenerative disorder
- 4Disease
- 4Disorder of body system
- 4General finding of soft tissue
- 4Muscle finding
Showing 25 of 29. Retrieve the full set via the API.
Narrower concepts
(51)Included automatically when you query with descendants.
- 1Autosomal dominant muscular dystrophy not predominantly limb girdle
- 1Autosomal recessive muscular dystrophy not predominantly limb girdle
- 1Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein
- 1Autosomal recessive myogenic arthrogryposis multiplex congenita
- 1Bethlem myopathy
- 1Congenital muscular dystrophy due to LMNA mutation
- 1Congenital muscular dystrophy Paradas type
- 1Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome
- 1Congenital muscular dystrophy type 1A
- 1Congenital muscular dystrophy type 1B
- 1Congenital muscular dystrophy type 1C due to fukutin related protein gene mutation
- 1Congenital muscular dystrophy type 1D large gene mutation
- 1Congenital muscular dystrophy with arthrogryposis multiplex congenita
- 1Congenital muscular dystrophy with cerebellar involvement
- 1Congenital muscular dystrophy with hyperlaxity
- 1Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
- 1Congenital muscular dystrophy with integrin alpha-7 deficiency
- 1Congenital muscular dystrophy with intellectual disability
- 1Congenital muscular dystrophy with intellectual disability and severe epilepsy
- 1Congenital muscular dystrophy without intellectual disability
- 1Congenital muscular hypertrophy-cerebral syndrome
- 1Congenital myotonic dystrophy
- 1Early onset myopathy with fatal cardiomyopathy
- 1Eichsfeld type congenital muscular dystrophy
- 1Epidermolysis bullosa simplex with muscular dystrophy
Showing 25 of 51. Retrieve the full set via the API.
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