ORPHA:93447
Primary bone dysplasia with defective bone mineralization
Synonyms: Primary osteodysplasia with defective bone mineralization · Primary skeletal dysplasia with defective bone mineralization
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary bone dysplasia with defective bone mineralization | Primary osteodysplasia with defective bone mineralization · Primary skeletal dysplasia with defective bone mineralization |
| fr | Dysplasie osseuse primaire par défaut de minéralisation | Dysplasie squelettique primaire par défaut de minéralisation · Ostéodysplasie primaire par défaut de minéralisation |
| de | Primäre Knochendysplasie mit Knochenmineralisationsdefekt | Primäre Osteodysplasie mit Knochenmineralisationsdefekt · Primäre Skelettdysplasie mit Knochenmineralisationsdefekt |
| es | Displasia ósea primaria con mineralización ósea defectuosa | Displasia esquelética primaria con mineralización ósea defectuosa · Osteodisplasia primaria con mineralización ósea defectuosa |
| it | Displasia ossea primitiva con difetto della mineralizzazione ossea | Displasia scheletrica primitiva con difetto della mineralizzazione ossea · Osteodisplasia primitiva con difetto della mineralizzazione ossea |
| nl | Primaire botdysplasie met defecte botmineralisatie | Primaire osteodysplasie met defecte botmineralisatie · Primaire skeletdysplasie met defecte botmineralisatie |
| pt | Doença óssea com deficiência da mineralização óssea | |
| pl | Choroba kości z wadliwą mineralizacją | = en |
| cs | Primární kostní dysplázie s vadnou kostní mineralizací | Primární osteodysplázie s vadnou kostní mineralizací · Primární skeletální dysplázie s vadnou kostní mineralizací |
| uk | Первинна кісткова дисплазія з порушенням мінералізації кісткової тканини | Первинна остеодисплазія з порушенням мінералізації кісткової тканини · Первинна скелетна дисплазія з порушенням мінералізації кісток |
| zh | 原发性骨发育不良伴骨矿化缺陷 | 原发性骨发育不良伴骨矿化缺陷 |
| tr | Defektif kemik mineralizasyonu ile seyreden primer kemik displazisi | Defektif kemik mineralizasyonu ile seyreden primer osteodisplazi · Defektif kemik mineralizasyonu ile seyreden primer iskelet displazisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680272 | 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:364526Primary bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
Children (9):
- ORPHA:289098Disorders of vitamin D metabolism
- ORPHA:79106Eiken syndrome
- ORPHA:1416Familial calcium pyrophosphate deposition
- ORPHA:405Familial hypocalciuric hypercalcemia
- ORPHA:436Hypophosphatasia
- ORPHA:50811Lipodystrophy-intellectual disability-deafness syndrome
- ORPHA:417Neonatal severe primary hyperparathyroidism
- ORPHA:557003Oculoskeletodental syndrome
- ORPHA:73230Ossification anomalies-psychomotor developmental delay syndrome
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Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
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/93447
- This record as JSON: /data/d/93447.json