OMOP Concept 4248149
Vitamin D-dependent rickets, type 2
StandardConditionSNOMED72831007Disorder
Maps from
4
Descendants
2
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 Vitamin D-dependent rickets, type 2 via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 123035 | Vitamin D-dependent rickets, type 2 | Non-standard |
| MeSH | D053098 | Familial Hypophosphatemic Rickets | Non-standard |
| Nebraska Lexicon | 72831007 | End organ unresponsiveness to 1,25-dihydroxycholecalciferol | Non-standard |
| Read | C28A100 | Vitamin D-dependent rickets type II | Non-standard |
Synonyms
Alternative names recorded for Vitamin D-dependent rickets, type 2 across source vocabularies.
- anomalía del receptor de calcitriol
- Calcitriol receptor defect
- End organ unresponsiveness to 1,25-dihydroxycholecalciferol
- raquitismo dependiente de vitamina D, tipo 2
- raquitismo dependiente de vitamina D, tipo 2 (trastorno)
- Type 2 vitamin D-dependent rickets
- Vitamin D-dependent rickets, type 2 (disorder)
- Vitamin D-dependent rickets type II
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(24)Roll up to these when you need a wider cohort.
- 1Congenital disease
- 1Vitamin D-dependent rickets
- 2Disorder of fetus and/or newborn
- 2Hereditary disorder of musculoskeletal system
- 2Rickets
- 3Arthropathy
- 3Disease
- 3Disorder of musculoskeletal system
- 3Disorder with defective osteoid mineralization
- 3Functional finding
- 3Hereditary disorder by system
- 4Clinical finding
- 4Disorder of body system
- 4Disorder of joint region
- 4Disorder of mineral metabolism
- 4Disorder of skeletal system
- 4Hereditary disease
- 4Joint finding
- 4Metabolic bone disease
- 4Musculoskeletal finding
- 5Disorder of bone
- 5Genetic disease
- 5Metabolic disease
- 6Bone finding
Narrower concepts
(2)Included automatically when you query with descendants.
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