OMOP Concept 604891
Rhizomelic chondrodysplasia punctata type 1
StandardConditionSNOMED1003862001Disorder
Maps from
1
Descendants
0
Valid from
31 Jan 2021
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Rhizomelic chondrodysplasia punctata type 1 via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C531651 | Rhizomelic chondrodysplasia punctata, type 1 | Non-standard |
Synonyms
Alternative names recorded for Rhizomelic chondrodysplasia punctata type 1 across source vocabularies.
- condrodisplasia punteada rizomélica tipo 1
- condrodisplasia punteada rizomélica tipo 1 (trastorno)
- Rhizomelic chondrodysplasia punctata type 1 (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(34)Roll up to these when you need a wider cohort.
- 1Rhizomelic chondrodysplasia punctata syndrome
- 2Chondrodysplasia punctata
- 2Congenital deformity of musculoskeletal system
- 2Deformation of bone
- 2Developmental hereditary disorder
- 2Disorder of epiphysis
- 2Hereditary disorder of musculoskeletal system
- 2Loss of multiple peroxisomal functions
- 2Metabolic bone disease
- 3Bone finding
- 3Congenital anomaly of musculoskeletal system
- 3Congenital anomaly of skeletal bone
- 3Congenital deformity
- 3Deformity
- 3Developmental disorder
- 3Disorder of bone
- 3Disorder of musculoskeletal system
- 3Disorder of peroxisomal function
- 3Hereditary disease
- 3Hereditary disorder by system
- 3Metabolic disease
- 3Skeletal dysplasia
- 4Clinical finding
- 4Congenital malformation
- 4Disease
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