ORPHA:93440
Slender bone 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 | Slender bone dysplasia | |
| fr | Dysplasie avec gracilité osseuse | |
| de | Dysplasie, dünner Knochen | |
| es | Displasia de huesos finos | |
| it | Displasia con ossa sottili | |
| nl | Tenger bot-dysplasie | |
| pt | Displasia de ossos finos | |
| pl | Dysplazja smukłych kości | |
| cs | Dysplázie spojená se ztenčením kostí | |
| uk | Кісткова дисплазія Слендера | |
| zh | 骨细长发育不良症 | |
| tr | İnce kemik displazisi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD24.D | E | specific | validated |
| UMLS | C4736215 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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 (15):
- ORPHA:26163M syndrome
- ORPHA:572761DONSON-related microcephaly-short stature-limb abnormalities spectrum
- ORPHA:2554Ear-patella-short stature syndrome
- ORPHA:2108Hallermann-Streiff syndrome
- ORPHA:85173IMAGe syndrome
- ORPHA:2333Kenny-Caffey syndrome
- ORPHA:50811Lipodystrophy-intellectual disability-deafness syndrome
- ORPHA:85172Microcephalic osteodysplastic dysplasia, Saul-Wilson type
- ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type II
- ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and III
- ORPHA:2643Microcephalic primordial dwarfism, Toriello type
- ORPHA:2763Osteocraniostenosis
- ORPHA:808Seckel syndrome
- ORPHA:314394Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
- ORPHA:1506Thin ribs-tubular bones-dysmorphism syndrome
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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93440
- This record as JSON: /data/d/93440.json