ORPHA:364536
Primary bone dysplasia with micromelia
Synonyms: Primary osteodysplasia with micromelia · Primary skeletal dysplasia with micromelia
- 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 micromelia | Primary osteodysplasia with micromelia · Primary skeletal dysplasia with micromelia |
| fr | Dysplasie osseuse primaire avec micromélie | Dysplasie squelettique primaire avec micromélie · Ostéodysplasie primaire avec micromélie |
| de | Primäre Knochendysplasie mit Mikromelie | Primäre Osteodysplasie mit Mikromelie · Primäre Skelettdysplasie mit Mikromelie |
| es | Displasia ósea primaria con micromelia | Displasia esquelética primaria con micromelia · Osteodisplasia primaria con micromelia |
| it | Displasia ossea primitiva con micromelia | Displasia scheletrica primitiva con micromelia · Osteodisplasia primitiva con micromelia |
| nl | Primaire botdysplasie met micromelie | Primaire osteodysplasie met micromelie · Primaire skeletdysplasie met micromelie |
| pt | Displasia óssea primária com micromelia | |
| pl | Pierwotna dysplazja kości z mikromelią | Pierwotna dysplazja szkieletowa z mikromelią · Pierwotna osteodysplazja z mikromelią |
| cs | Primární kostní dysplázie s mikromelií | Primární osteodysplázie s mikromelií |
| uk | Первинна дисплазія кісток з мікромелією | Первинна остеодисплазія з мікромелією · Первинна скелетна дисплазія з мікромелією |
| zh | 原发性骨发育不良伴四肢短小 | 原发性骨发育不良伴短肢畸形 |
| tr | Mikromeli ile seyreden primer kemik displazisi | Mikromeliye bağlı primer osteodisplazi · Mikromeliye bağlı primer iskelet displazisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18232 | E | validated | |
| UMLS | C5679917 | 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
Codes that Orphanet moved or referred to this one:
- ORPHA:93469OBSOLETE: Harmonic micromelia referred to · inactive
- ORPHA:93470OBSOLETE: Dysharmonic micromelia 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/364536
- This record as JSON: /data/d/364536.json