ORPHA:93430
Multiple metaphyseal dysplasia
- Type
- Clinical group
- 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple metaphyseal dysplasia | |
| fr | Dysplasie métaphysaire multiple | |
| de | Dysplasie, metaphysäre | |
| es | Displasia metafisaria múltiple | |
| it | Displasia metafisaria multipla | |
| nl | Meervoudige metafysaire dysplasie | |
| pt | Displasia epifisiária múltipla | |
| pl | Dysplazja wieloprzynasadowa | |
| cs | Mnohočetné metafyzární dysplázie | |
| uk | Множинна метафізарна дисплазія | |
| zh | 多干骺端发育不良 | |
| tr | Çoklu metafizer displazi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD24.7 | E | specific | validated |
| UMLS | C5681610 | 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 (11):
- ORPHA:175Cartilage-hair hypoplasia
- ORPHA:79106Eiken syndrome
- ORPHA:1040Metaphyseal anadysplasia
- ORPHA:33067Metaphyseal chondrodysplasia, Jansen type
- ORPHA:166038Metaphyseal chondrodysplasia, Kaitila type
- ORPHA:1837Metaphyseal chondrodysplasia, Rosenberg type
- ORPHA:174Metaphyseal chondrodysplasia, Schmid type
- ORPHA:2501Metaphyseal chondrodysplasia, Spahr type
- ORPHA:2502Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
- ORPHA:2504Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
- ORPHA:811Shwachman-Diamond syndrome
Codes that Orphanet moved or referred to this one:
- ORPHA:1819OBSOLETE: Epimetaphyseal skeletal dysplasia referred to · inactive
- ORPHA:90345OBSOLETE: Unclassified metaphyseal chondrodysplasia referred to · inactive
4
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/93430
- This record as JSON: /data/d/93430.json