ORPHA:183530
Rare genetic developmental defect during embryogenesis
- 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare genetic developmental defect during embryogenesis | |
| fr | Anomalie rare du développement embryonnaire d'origine génétique | |
| de | Seltener genetischer Entwicklungsdefekt während der Embryogenese | |
| es | Trastornos del desarrollo embrionario genéticos raros | |
| it | Difetto raro di sviluppo dell'embrione di origine genetica | |
| nl | Zeldzame genetische ontwikkelingsstoornis tijdens embryogenese | |
| pt | Anomalia do desenvolvimento durante a embriogénese, genética, rara | |
| pl | Rzadkie zaburzenie rozwoju podczas embriogenezy uwarunkowane genetycznie | |
| cs | Vzácné geneticky podmíněné vývojové defekty vznikající v průběhu embryogeneze | |
| uk | Рідкісний генетично обумовлений дефект розвитку під час ембріогенезу | |
| zh | 罕见遗传性胚胎发育期发育障碍 | |
| tr | Embriyogenez sırasında nadir genetik gelişimsel defekt |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15960 | E | validated | |
| UMLS | C5680559 | 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:98053Rare genetic disease
rare genetic diseases
Children (27):
- ORPHA:730421Complex neurodevelopmental disorder with unspecific dysmorphic features/congenital anomalies without intellectual disability or autism spectrum disorder
- ORPHA:139009Developmental anomaly of metabolic origin
- ORPHA:280403Familial omphalocele syndrome with facial dysmorphism
- ORPHA:183576Genetic branchial arch or oral-acral syndrome
- ORPHA:271853Genetic cardiac anomaly
- ORPHA:183506Genetic central nervous system malformation
- ORPHA:183536Genetic congenital limb malformation
- ORPHA:183542Genetic cranial malformation
- ORPHA:183557Genetic developmental defect of the eye
- ORPHA:325690Genetic difference of sex development
- ORPHA:183545Genetic digestive tract malformation
- ORPHA:183583Genetic head and neck malformation
- ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
- ORPHA:183570Genetic malformation syndrome with short stature
- ORPHA:183533Genetic multiple congenital anomalies/dysmorphic syndrome
- ORPHA:183573Genetic overgrowth/obesity syndrome
- ORPHA:363245Genetic progeroid syndrome
- ORPHA:183539Genetic renal or urinary tract malformation
- ORPHA:183554Genetic respiratory or mediastinal malformation
- ORPHA:211240Genetic vascular anomaly
- ORPHA:183548Genetic visceral malformation of the liver, biliary tract, pancreas or spleen
- ORPHA:98196Malformation syndrome with hamartosis
- ORPHA:363999Non-immune hydrops fetalis
- ORPHA:2847Pericardial and diaphragmatic defect
- ORPHA:139030Rare developmental defect with connective tissue involvement
- ORPHA:139027Rare developmental defect with skin/mucosae involvement
- ORPHA:404584Rare genetic bone development disorder
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/183530
- This record as JSON: /data/d/183530.json