ORPHA:93890
Rare developmental defect during embryogenesis
Synonyms: Malformation syndrome
- Type
- Category
- Group
- Group of disorders
- Status
- active
- Flag
- Head of classification
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 | Rare developmental defect during embryogenesis | Malformation syndrome |
| fr | Anomalie rare du développement embryonnaire | Syndrome malformatif |
| de | Seltener Entwicklungsdefekt während der Embryogenese | |
| es | Defectos raros del desarrollo embrionario | |
| it | Anomalie dello sviluppo durante l'embriogenesi | |
| nl | Zeldzame ontwikkelingsstoornis tijdens embryogenese | Malformatiesyndroom |
| pt | Defeito de desenvolvimento durante a embriogenese | |
| pl | Rzadkie zaburzenia rozwoju podczas embriogenezy | Zespół malformacji |
| cs | Vzácné poruchy vývoje v průběhu embryogeneze | Malformační syndromy |
| uk | Рідкісна вада розвитку під час ембріогенезу | Синдром мальформації |
| zh | 罕见胚胎发育缺陷 | 畸形综合征 |
| tr | Embriyojenez sırasında nadir görülen gelişimsel defekt | Malformasyon sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680284 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Not placed in any Orphanet classification in this release.
Children (32):
- ORPHA:139036Branchial arch or oral-acral syndrome
- ORPHA:98044Central nervous system malformation
- ORPHA:730421Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without intellectual disability or autism spectrum disorder
- ORPHA:68378Congenital limb malformation
- ORPHA:647916Conjoined twins
- ORPHA:98038Cranial malformation
- ORPHA:139009Developmental anomaly of metabolic origin
- ORPHA:98553Developmental defect of the eye
- ORPHA:98043Diaphragmatic or abdominal wall malformation
- ORPHA:90771Difference of sex development
- ORPHA:98039Digestive tract malformation
- ORPHA:728725Fetus in fetu
- ORPHA:1041Hydrops fetalis
- ORPHA:98196Malformation syndrome with hamartosis
- ORPHA:139042Malformation syndrome with odontal and/or periodontal component
- ORPHA:139021Malformation syndrome with short stature
- ORPHA:68341Multiple congenital anomalies/dysmorphic syndrome
- ORPHA:139024Overgrowth/obesity syndrome
- ORPHA:139033Progeroid syndrome
- ORPHA:139012Rare bone development disorder
- ORPHA:68335Rare chromosomal anomaly
- ORPHA:139030Rare developmental defect with connective tissue involvement
- ORPHA:139027Rare developmental defect with skin/mucosae involvement
- ORPHA:155832Rare head and neck malformation
- ORPHA:97965Rare surgical cardiac disease
- ORPHA:90642Rare syndromic genetic deafness
- ORPHA:52662Rare teratologic disease
- ORPHA:68419Rare vascular anomaly
- ORPHA:93545Renal or urinary tract malformation
- ORPHA:98045Respiratory or mediastinal malformation
- ORPHA:83001Urogenital tract malformation
- ORPHA:98041Visceral malformation of the liver, biliary tract, pancreas or spleen
Codes that Orphanet moved or referred to this one:
- ORPHA:2161OBSOLETE: Holoacardius amorphus referred to · inactive
- ORPHA:3160OBSOLETE: Vascular disruption sequence referred to · inactive
- ORPHA:139006OBSOLETE: Sequence or association referred 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 |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.3 / 100 000 | France | Value and class | Validated | 22939647[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.42 / 100 000 | France | Value and class | Validated | 22939647[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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/93890
- This record as JSON: /data/d/93890.json