ORPHA:99647
Cheirospondyloenchondromatosis
inactive · moved to ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Synonyms: Enchondromatosis Spranger, type VI · Generalized enchondromatosis with platyspondyly
- Type
- Disease
- Group
- Disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cheirospondyloenchondromatosis | Enchondromatosis Spranger, type VI · Generalized enchondromatosis with platyspondyly |
| fr | Cheiro-spondylo-enchondromatose | Enchondromatose Spranger type VI · Enchondromatose généralisée avec platispondylie |
| de | Cheiro-spondylo-enchondromatose | Generalisierte Enchondromatose mit Platyspondylie |
| es | Quiro-espondiloencondromatosis | |
| it | Cheiro-spondilo-encondromatosi | Encondromatosi generalizzata con platispondilia |
| nl | Cheiro-spondylo-enchondromatose | Gegeneraliseerde enchondromatose met platyspondylie |
| pt | Queiro-espondiloencondromatose | |
| pl | Chrzęstniakowatość śródkostna rąk i kręgów | = en |
| cs | Cheirospondyloenchondromatóza | Generalizovaná enchondromatóza s platyspondylií |
| uk | Хейроспондилоенхондроматоз | Енхондроматоз Шпрангера, тип VI · Генералізований енхондроматоз з пластинчастим спондилоартритом |
| zh | 手型脊椎内生性软骨瘤病 | 泛发性软骨瘤病合并颈椎病 |
| tr | Cheiro spondilo enkondromatosis | Platispondili ile seyreden jeneralize enkondromatozis |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0020474 | E | validated | |
| UMLS | C4510810 | 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/99647
- This record as JSON: /data/d/99647.json