ORPHA:93444
Primary bone dysplasia with increased bone density
Synonyms: Primary osteodysplasia with increased bone density · Primary skeletal dysplasia with increased bone density · Sclerosing bone dysplasia
- 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 increased bone density | Primary osteodysplasia with increased bone density · Primary skeletal dysplasia with increased bone density · Sclerosing bone dysplasia |
| fr | Dysplasie osseuse primaire condensante | Dysplasie osseuse sclérosante · Dysplasie squelettique primaire condensante · Ostéodysplasie primaire condensante |
| de | Primäre Knochendysplasie mit erhöhter Knochendichte | Knochendysplasie, sklerosierende · Primäre Osteodysplasie mit erhöhter Knochendichte · Primäre Skelettdysplasie mit erhöhter Knochendichte |
| es | Displasia ósea primaria con aumento de la densidad ósea | Displasia esquelética primaria con aumento de la densidad ósea · Displasia ósea esclerosante · Osteodisplasia primaria con aumento de la densidad ósea |
| it | Displasia ossea primitiva con aumento della densità ossea | Displasia scheletrica primitiva con aumento della densità ossea · Osteodisplasia primitiva con aumento della densità ossea |
| nl | Primaire botdysplasie met verhoogde botdichtheid | Primaire osteodysplasie met verhoogde botdichtheid · Primaire skeletdysplasie met verhoogde botdichtheid · Scleroserende botdysplasie |
| pt | Doença óssea com aumento da densidade óssea sem modificação da forma do osso | |
| pl | Choroba kości ze zwiększoną gęstością bez zmiany kształtu | = en |
| cs | Primární kostní dysplázie se zvýšenou kostní denzitou | Primární osteodysplázie se zvýšenou kostní denzitou · Primární skeletální dysplázie se zvýšenou kostní denzitou |
| uk | Первинна кісткова дисплазія з підвищеною щільністю кісткової тканини | Первинна остеодисплазія з підвищеною щільністю кісткової тканини · Первинна скелетна дисплазія з підвищеною щільністю кісткової тканини · Склерозуюча дисплазія кісток |
| zh | 原发性骨发育不良伴骨密度增加 | 原发性骨发育不良伴骨密度增加 |
| tr | Artmış kemik yoğunluğu ile seyreden primer kemik displazisi | Sklerozan kemik displazisi · Artmış kemik yoğunluğu ile seyreden primer osteodisplazi · Artmış kemik yoğunluğu ile seyreden primer iskelet displazisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680274 | 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 (27):
- ORPHA:1328Camurati-Engelmann disease
- ORPHA:1513Craniodiaphyseal dysplasia
- ORPHA:1798Craniofacial dysostosis-diaphyseal hyperplasia syndrome
- ORPHA:85184Craniometadiaphyseal dysplasia, wormian bone type
- ORPHA:1522Craniometaphyseal dysplasia
- ORPHA:728902Craniotubular dysplasia, Ikegawa type
- ORPHA:85182Diaphyseal medullary stenosis-bone malignancy syndrome
- ORPHA:646139Dysplastic cortical hyperostosis
- ORPHA:2790Endosteal hyperostosis, Worth type
- ORPHA:1802Ghosal hematodiaphyseal dysplasia
- ORPHA:314029High bone mass osteogenesis imperfecta
- ORPHA:3416Hyperostosis corticalis generalisata
- ORPHA:443098Hyperostosis cranialis interna
- ORPHA:2801Juvenile Paget disease
- ORPHA:2658Lenz-Majewski hyperostotic dysplasia
- ORPHA:85188Metaphyseal dysplasia, Braun-Tinschert type
- ORPHA:324364Mixed sclerosing bone dystrophy with extra-skeletal manifestations
- ORPHA:93443Neonatal osteosclerotic dysplasia
- ORPHA:2710Oculodentodigital dysplasia
- ORPHA:2779Osteopathia striata-pigmentary dermopathy-white forelock syndrome
- ORPHA:2781Osteopetrosis and related disorders
- ORPHA:75325Osteosclerosis-ichthyosis-premature ovarian failure syndrome
- ORPHA:248095Primary hypertrophic osteoarthropathy
- ORPHA:3005Pyle disease
- ORPHA:3152Sclerosteosis
- ORPHA:3352Tricho-dento-osseous syndrome
- ORPHA:391327X-linked calvarial hyperostosis
Codes that Orphanet moved or referred to this one:
- ORPHA:1562OBSOLETE: Dacryocystitis-osteopoikilosis syndrome referred to · inactive
- ORPHA:93445OBSOLETE: Bone disease with increased bone density and metaphyseal or diaphyseal involvement referred to · inactive
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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/93444
- This record as JSON: /data/d/93444.json