ORPHA:50816
Spondylometaphyseal dysplasia with combined immunodeficiency
inactive · moved to ORPHA:1855Spondyloenchondrodysplasia
Synonyms: Roifman-Melamed syndrome · SPENCDI · Spondyloenchondrodysplasia with immune dysregulation
- Type
- Disease
- Group
- Disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spondyloenchondrodysplasia
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondylometaphyseal dysplasia with combined immunodeficiency | Roifman-Melamed syndrome · SPENCDI · Spondyloenchondrodysplasia with immune dysregulation |
| fr | Syndrome de dysplasie spondylo-métaphysaire-déficit immunitaire combiné | SPENCDI · Syndrome de Roifman-Melamed |
| de | Spondylometaphysäre Dysplasie mit kombinierten Immundefekt | Roifman-Melamed-Syndrom |
| es | Displasia espondilometafisaria con inmunodeficiencia combinada | Espondiloencondrodisplasia con inmunodeficiencia combinada · SPENCDI · Síndrome de Roifman-Melamed |
| it | Displasia spondilometafisaria con immunodeficienza combinata | SPENCDI · Sindrome di Roifman-Melamed · Spondiloencondrodisplasia con disregolazione immunitaria |
| nl | Spondylometafysaire dysplasie met gecombineerde immuundeficiëntie | SPENCDI · Spondylo-enchondrodysplasie met immuundisregulatie · Syndroom van Roifman-Melamed |
| pt | Displasia espondilo-metafisária com imunodeficiência combinada | Síndrome Roifman-Melamed |
| pl | Dysplazja kręgosłupowo-przynasadowa ze złożonym niedoborem odporności | SPENCDI · Spondyloenchondrodysplasia with immune dysregulation · Zespół Roifmana i Melameda |
| cs | Spondylometafyzární dysplázie s kombinovanou imunodeficiencí | SPENCDI · Spondyloenchondrodysplázie s dysregulací imunity · Roifmanův-Melamedův syndrom · Roifman-Melamedův syndrom |
| uk | Спондилометафізарна дисплазія з комбінованим імунодефіцитом | Синдром Ройфмана-Меламеда · SPENCDI · Спондилоенхондродисплазія з імунною дисрегуляцією |
| zh | 脊椎干骺端发育不良伴联合免疫缺陷 | 脊柱骨软骨发育不良伴免疫功能异常 |
| tr | Spondilometafizer displazi ile seyreden kombine immün yetmezlik | SPENCDI · Roifman-Melamed sendromu · İmmün düzensizlik ile seyreden spondiloenkondrodisplazi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C1842763 | 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
Not placed in any Orphanet classification in this release.
No children.
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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/50816
- This record as JSON: /data/d/50816.json