OMOP Concept 45766379
Spondyloenchondrodysplasia with immune dysregulation
StandardConditionSNOMED703523004Disorder
Maps from
1
Descendants
0
Valid from
31 Jul 2014
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Spondyloenchondrodysplasia with immune dysregulation via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C564307 | Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia | Non-standard |
Synonyms
Alternative names recorded for Spondyloenchondrodysplasia with immune dysregulation across source vocabularies.
- Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia
- espondiloencondrodisplasia con desregulación inmunitaria
- espondiloencondrodisplasia con desregulación inmunitaria (trastorno)
- inmunodeficiencia combinada con autoinmunidad y displasia espondilometafisaria
- Roifman-Costa syndrome
- Roifman-Melamed syndrome
- síndrome de Roifman-Costa
- síndrome de Roifman-Melamed
- Spondyloenchondrodysplasia with immune dysregulation (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(48)Roll up to these when you need a wider cohort.
- 1Autoimmune disease
- 1Spondyloenchondrodysplasia
- 2Autosomal recessive hereditary disorder
- 2Developmental hereditary disorder
- 2Disorder of immune function
- 2Hereditary disorder of immune system
- 2Hereditary disorder of musculoskeletal system
- 2Metaphyseal chondrodysplasia
- 2Type I interferonopathy
- 3Autosomal hereditary disorder
- 3Congenital anomaly of skeletal bone
- 3Congenital malformation syndromes associated with short stature
- 3Developmental disorder
- 3Disease
- 3Disorder of musculoskeletal system
- 3Hereditary disease
- 3Hereditary disorder by system
- 3Lesion of bone
- 3Monogenic autoinflammatory syndrome
- 3Skeletal dysplasia
- 4Autoinflammatory disease
- 4Clinical finding
- 4Congenital anomaly of musculoskeletal system
- 4Congenital malformation syndrome
- 4Disorder of body system
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