ORPHA:156731
Dyssegmental dysplasia, Rolland-Desbuquois type
- Type
- Disease
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dyssegmental dysplasia, Rolland-Desbuquois type | |
| fr | Dysplasie dyssegmentaire type Rolland-Desbuquois | |
| de | Dysplasie, dyssegmentale, Typ Rolland-Desbuquois | |
| es | Displasia disegmentaria tipo Rolland-Desbuquois | |
| it | Displasia dissegmentaria, tipo Rolland-Desbuquois | |
| nl | Dyssegmentale dysplasie, Rolland-Desbuquois-type | |
| pt | Displasia dissegmentar, tipo Rolland-Desbuquois | |
| pl | Dysplazja, typ Rollanda i Desbuquois | |
| cs | Dyssegmentální dysplázie, Rollandův-Desbuquoisův typ | Dyssegmentální dysplázie, Rolland-Desbuquoisův typ |
| uk | Диссегментарна дисплазія, тип Роллана-Дебукуа | |
| zh | 罗兰-德布奎斯型节段性发育不良 | |
| tr | Dissegmental displazi, Rolland-Desbuquois tipi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 224400 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0009139 | E | validated | |
| MeSH | C537999 | E | validated | |
| UMLS | C0432209 | E | validated | |
| GARD | 9810 | 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:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1804Dyssegmental dysplasia-glaucoma syndrome moved to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 38424183[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 38424183[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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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/156731
- This record as JSON: /data/d/156731.json