OMOP Concept 441280
Schwartz-Jampel syndrome
StandardConditionSNOMED29145002Disorder
Maps from
5
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
5 source codes normalize to Schwartz-Jampel syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 127114 | Myotonic chondrodystrophy | Non-standard |
| ICD10CM | G71.13 | Myotonic chondrodystrophy | Non-standard |
| Nebraska Lexicon | 29145002 | Osteochondromuscular dystrophy | Non-standard |
| Read | PG42100 | Myotonic chondrodysplasia | Non-standard |
| Read | PG42111 | Catel-Schwartz-Jampel syndrome | Non-standard |
Synonyms
Alternative names recorded for Schwartz-Jampel syndrome across source vocabularies.
- Aberfeld syndrome
- Burton skeletal dysplasia
- Burton syndrome
- Catel Hempel syndrome
- Chondrodystrophic myotonia
- distrofia osteocondromuscular
- miotonía condrodistrófica
- Myotonia chondrodystrophica
- Osteochondromuscular dystrophy
- Schwartz-Jampel syndrome (disorder)
- síndrome de Burton
- síndrome de Schwartz-Jampel
- síndrome de Schwartz-Jampel (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(37)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Developmental hereditary disorder
- 1Hereditary disorder of musculoskeletal system
- 1Hereditary disorder of nervous system
- 1Multiple system malformation syndrome
- 1Myoneural disorder
- 1Myotonia congenita
- 1Spondyloepiphyseal dysplasia congenita
- 2Autosomal hereditary disorder
- 2Congenital anomaly of skeletal bone
- 2Congenital disease
- 2Congenital malformation syndrome
- 2Developmental disorder
- 2Disorder of musculoskeletal system
- 2Disorder of nervous system
- 2Disorder of skeletal muscle
- 2Disorder of the peripheral nervous system
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Myotonic disorder
- 2Skeletal dysplasia
- 3Congenital anomaly of musculoskeletal system
- 3Congenital malformation
- 3Disease
- 3Disorder of body system
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