ORPHA:471383
Genetic lethal multiple congenital anomalies/dysmorphic syndrome
- 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 | Genetic lethal multiple congenital anomalies/dysmorphic syndrome | |
| fr | Anomalies congénitales multiples/syndrome dysmorphique létal d'origine génétique | |
| de | Letale multiple kongenitale Anomalien/Dysmorphien-Syndrom, genetisch bedingtes | |
| es | Anomalías congénitas múltiples/síndrome dismórfico letal de origen genético | |
| it | Sndrome genetica letale da dismorfismi/anomalie congenite multiple | |
| nl | Genetische letale meervoudige congenitale anomalieën/dysmorfiesyndroom | |
| pt | Síndrome de anomalias congénitas múltiplas letais genéticas/síndrome dismórfica | |
| pl | Genetyczne śmiertelne mnogie wady wrodzone/zespół dysmorficzny | |
| cs | Geneticky podmíněný letální syndrom s mnohočetnými vrozenými anomáliemi/dysmorfismem | |
| uk | Генетично обумовлені летальні множинні вроджені аномалії/дисморфічний синдром | |
| zh | 遗传致死性多发性先天畸形综合征 | |
| tr | Genetik letal çoklu doğumsal anomaliler/dismorfik sendrom |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681265 | 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:183533Genetic multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases
Children (20):
- ORPHA:1234Bartsocas-Papas syndrome
- ORPHA:527468Diaphragmatic hernia-short bowel-asplenia syndrome
- ORPHA:1895Edinburgh malformation syndrome
- ORPHA:199332Endocrine-cerebro-osteodysplasia syndrome
- ORPHA:2077German syndrome
- ORPHA:580933Lethal brain and heart developmental defects
- ORPHA:1972Lethal faciocardiomelic dysplasia
- ORPHA:444069Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
- ORPHA:480528Lethal hydranencephaly-diaphragmatic hernia syndrome
- ORPHA:2570Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
- ORPHA:33108Lethal multiple pterygium syndrome
- ORPHA:210144Lethal polymalformative syndrome, Boissel type
- ORPHA:615954Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome
- ORPHA:2432Macrosomia-microphthalmia-cleft palate syndrome
- ORPHA:564Meckel syndrome
- ORPHA:2547Microphthalmia-microtia-fetal akinesia syndrome
- ORPHA:500135Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
- ORPHA:633099PAICS deficiency
- ORPHA:1780Thakker-Donnai syndrome
- ORPHA:3376Triploidy 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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/471383
- This record as JSON: /data/d/471383.json