OMOP Concept 4203639
Freeman-Sheldon syndrome
StandardConditionSNOMED52616002Disorder
Maps from
4
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
4 source codes normalize to Freeman-Sheldon syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 139807 | Freeman-Sheldon syndrome | Non-standard |
| MeSH | C535483 | Freeman-Sheldon syndrome | Non-standard |
| Read | PKy5300 | Whistling face syndrome | Non-standard |
| Read | PKy5311 | Freeman Sheldon syndrome | Non-standard |
Synonyms
Alternative names recorded for Freeman-Sheldon syndrome across source vocabularies.
- Craniocarpotarsal dysplasia
- Craniocarpotarsal dystrophy
- displasia craneocarpotarsal
- displasia cráneo-carpo-tarsal
- Distal arthrogryposis type 2A
- Freeman Burian syndrome
- Freeman-Sheldon syndrome (disorder)
- síndrome de Freeman-Sheldon
- síndrome de Freeman-Sheldon (trastorno)
- Whistling face syndrome
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(56)Roll up to these when you need a wider cohort.
- 1Autosomal hereditary disorder
- 1Congenital anomaly of face bones
- 1Distal arthrogryposis syndrome
- 1Inherited arthrogryposis
- 1Multiple malformation syndrome with facial defects as major feature
- 2Arthrogryposis
- 2Congenital anomaly of bone of head
- 2Congenital anomaly of face
- 2Developmental hereditary disorder
- 2Disorder of facial bone
- 2Genetic disease
- 2Hereditary disease
- 2Hereditary disorder of musculoskeletal system
- 2Multiple system malformation syndrome
- 3Congenital anomaly of head
- 3Congenital anomaly of skeletal bone
- 3Congenital deformity
- 3Congenital malformation syndrome
- 3Contracture of multiple joints
- 3Developmental disorder
- 3Disease
- 3Disorder of bone
- 3Disorder of face
- 3Disorder of musculoskeletal system
- 3Facial bone finding
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