ORPHA:289103
Hypocalcemic rickets
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
A group of rare genetic, vitamin D metabolism disorders characterized by hypocalcemia and rickets, and comprising of hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR). Characteristic clinical features include slow growth, bone pain and bone deformities. HVDRR is associated with resistance to vitamin D treatment.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypocalcemic rickets | |
| fr | Rachitisme hypocalcémique | |
| de | Rachitis, hypokalzämische | |
| es | Raquitismo hipocalcémico | |
| it | Rachitismo ipocalcemico | |
| nl | Hypocalciëmische rachitis | |
| pt | Raquitismo hipocalcémico | |
| pl | Krzywica hipokalcemiczna | |
| cs | Hypokalcemická křivice | |
| uk | Гіпокальціємічний рахіт | |
| zh | 低血钙性佝偻病 | |
| tr | Hipokalsemik raşitizm |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0017323 | E | validated | |
| MONDO | 17323 | E | validated | |
| UMLS | C4302195 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:289098Disorders of vitamin D metabolism
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases; rare bone diseases
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/289103
- This record as JSON: /data/d/289103.json