ORPHA:108979
Syndromic diaphragmatic or abdominal wall malformation
- 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 | Syndromic diaphragmatic or abdominal wall malformation | |
| fr | Malformation syndromique du diaphragme ou de la paroi abdominale | |
| de | Zwerchfell- und Bauchwandfehlbildung, syndromale | |
| es | Malformación sindrómica de la pared diafragmática y abdominal | |
| it | Malformazione sindromica del diaframma e della parete addominale | |
| nl | Syndromale diafragma- of buikwandmalformatie | |
| pt | Malformação do diafragma ou da parede abdominal sindromática | |
| pl | Syndromiczna malformacja przepony lub ściany brzucha | |
| cs | Syndromické malformace bránice nebo břišní stěny | |
| uk | Синдромальний порок розвитку діафрагми або черевної стінки | |
| zh | 综合征性膈或腹壁畸形 | |
| tr | Sendromik diyaframatik veya karın duvarı malformasyonu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15216 | E | validated | |
| UMLS | C5681759 | E | validated | |
| GARD | 19864 | 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:98043Diaphragmatic or abdominal wall malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases
Children (25):
- ORPHA:287Classical Ehlers-Danlos syndrome
- ORPHA:230839Classical-like Ehlers-Danlos syndrome type 1
- ORPHA:199Cornelia de Lange syndrome
- ORPHA:209Cutis laxa
- ORPHA:2141Diaphragmatic defect-limb deficiency-skull defect syndrome
- ORPHA:527468Diaphragmatic hernia-short bowel-asplenia syndrome
- ORPHA:2143Donnai-Barrow syndrome
- ORPHA:96170Emanuel syndrome
- ORPHA:280403Familial omphalocele syndrome with facial dysmorphism
- ORPHA:2059Fryns syndrome
- ORPHA:2322Kabuki syndrome
- ORPHA:480528Lethal hydranencephaly-diaphragmatic hernia syndrome
- ORPHA:2736Lethal omphalocele-cleft palate syndrome
- ORPHA:2369Limb body wall complex
- ORPHA:2470Matthew-Wood syndrome
- ORPHA:3164Omphalocele syndrome, Shprintzen-Goldberg type
- ORPHA:496693Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
- ORPHA:884Pallister-Killian syndrome
- ORPHA:1335Pentalogy of Cantrell
- ORPHA:2847Pericardial and diaphragmatic defect
- ORPHA:373Simpson-Golabi-Behmel syndrome
- ORPHA:314432Spigelian hernia-cryptorchidism syndrome
- ORPHA:3378Trisomy 13 syndrome
- ORPHA:3380Trisomy 18 syndrome
- ORPHA:280Wolf-Hirschhorn syndrome
Codes that Orphanet moved or referred to this one:
- ORPHA:93942OBSOLETE: Superior celosomia 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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/108979
- This record as JSON: /data/d/108979.json