OMOP Concept 4162806
Chondrodysplasia punctata, X-linked dominant type
StandardConditionSNOMED398958000Disorder
Maps from
3
Descendants
0
Valid from
31 Jul 2003
Valid to
31 Dec 2099
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Source codes that map to this concept
3 source codes normalize to Chondrodysplasia punctata, X-linked dominant type via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 145563 | Chondrodysplasia punctata, X-linked dominant type | Non-standard |
| Nebraska Lexicon | 398958000 | Chondrodysplasia punctata, X-linked dominant type | Non-standard |
| Nebraska Lexicon | 403778001 | X-linked dominant ichthyosis | Non-standard |
Synonyms
Alternative names recorded for Chondrodysplasia punctata, X-linked dominant type across source vocabularies.
- Chondrodysplasia punctata, X-linked dominant type (disorder)
- Chondrodystrophia calcificans congenita
- condrodisplasia punctata, tipo dominante ligada al cromosoma X
- condrodisplasia punctata, tipo dominante ligada al cromosoma X (trastorno)
- condrodistrofia congénita calcificante
- Conradi Hünermann Happle syndrome
- Happle syndrome
- síndrome de Conradi-Hünermann
- síndrome de Conradi-Hünermann-Happle
- X-linked chondrodysplasia punctata type 2
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(45)Roll up to these when you need a wider cohort.
- 1Chondrodysplasia punctata
- 1Developmental hereditary disorder
- 1Disorder of cholesterol synthesis
- 1Genodermatosis
- 1Hereditary disorder of musculoskeletal system
- 1Hereditary disorder of the integument
- 1Metabolic bone disease
- 1X-linked dominant hereditary disease
- 2Congenital anomaly of skeletal bone
- 2Congenital anomaly of skin
- 2Developmental disorder
- 2Disorder of bone
- 2Disorder of cholesterol metabolism
- 2Disorder of integument
- 2Disorder of lipid storage and metabolism
- 2Disorder of musculoskeletal system
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Metabolic disease
- 2Skeletal dysplasia
- 2X-linked hereditary disease
- 3Bone finding
- 3Congenital anomaly of integument
- 3Congenital anomaly of musculoskeletal system
- 3Disease
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