ORPHA:156532
Rare syndrome with cardiac malformations
- 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 syndrome with cardiac malformations | |
| fr | Syndrome rare avec malformations cardiaques | |
| de | Seltene Syndrome mit Herzfehlbildungen | |
| es | Síndrome raro con malformaciones cardíacas | |
| it | Sindromi rare con malformazioni cardiache | |
| nl | Zeldzaam syndroom met hartmalformaties | |
| pt | Síndrome raro com malformações cardíacas | |
| pl | Rzadki zespół z wadami serca | |
| cs | Vzácné syndromy s malformacemi srdce | |
| uk | Рідкісний синдром з серцевими вадами | |
| zh | 罕见心脏畸形综合征 | |
| tr | Kardiyak malformasyonlu nadir sendrom |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15506 | E | validated | |
| UMLS | C5680646 | 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 (2):
- ORPHA:98054Rare genetic cardiac disease
rare genetic diseases - ORPHA:97965Rare surgical cardiac disease
rare developmental anomalies during embryogenesis; rare cardiac malformations
Children (52):
- ORPHA:56722q11.2 deletion syndrome
- ORPHA:6847422q13 microdeletion syndrome
- ORPHA:5084888q24.3 microdeletion syndrome
- ORPHA:52Alagille syndrome
- ORPHA:1479Atrial septal defect-atrioventricular conduction defects syndrome
- ORPHA:1352Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
- ORPHA:69737Bosley-Salih-Alorainy syndrome
- ORPHA:75389Brain malformation-congenital heart disease-postaxial polydactyly syndrome
- ORPHA:646278CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome
- ORPHA:138CHARGE syndrome
- ORPHA:137628Cardiac anomalies-heterotaxy syndrome
- ORPHA:228410Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
- ORPHA:230851Cardiac-valvular Ehlers-Danlos syndrome
- ORPHA:508476Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
- ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- ORPHA:371183Congenital disorder of glycosylation with cardiac malformation as a major feature
- ORPHA:708019Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome
- ORPHA:521438Congenital vertebral-cardiac-renal anomalies syndrome
- ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- ORPHA:870Down syndrome
- ORPHA:289Ellis-Van Creveld syndrome
- ORPHA:284247Familial retinal arterial macroaneurysm
- ORPHA:664438Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome
- ORPHA:717841Global developmental delay-facial dysmorphism-atrial septal defect syndrome
- ORPHA:1354Heart defects-limb shortening syndrome
- ORPHA:392Holt-Oram syndrome
- ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
- ORPHA:457193KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
- ORPHA:580933Lethal brain and heart developmental defects
- ORPHA:2516Microcephaly-cardiac defect-lung malsegmentation syndrome
- ORPHA:217026Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
- ORPHA:2519Microcephaly-seizures-intellectual disability-heart disease syndrome
- ORPHA:453499Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
- ORPHA:684305Neurooculocardiogenitourinary syndrome
- ORPHA:98733Noonan syndrome and Noonan-related syndrome
- ORPHA:496693Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
- ORPHA:42775PHACE syndrome
- ORPHA:228190Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
- ORPHA:597743SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
- ORPHA:467176Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
- ORPHA:708166Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome
- ORPHA:589435Spondylometaphyseal dysplasia-corneal dystrophy syndrome
- ORPHA:689822Structural heart defects-renal anomalies syndrome
- ORPHA:3191Subaortic stenosis-short stature syndrome
- ORPHA:2886TARP syndrome
- ORPHA:562569TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
- ORPHA:592570TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
- ORPHA:3316Thomas syndrome
- ORPHA:488618Transketolase deficiency
- ORPHA:688642Turnpenny-Fry syndrome
- ORPHA:2475White forelock with malformations
- ORPHA:904Williams syndrome
Codes that Orphanet moved or referred to this one:
- ORPHA:98732OBSOLETE: Syndrome associated with a congenital cardiopathy referred to · inactive
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/156532
- This record as JSON: /data/d/156532.json