ORPHA:2847
Pericardial and diaphragmatic defect
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pericardial and diaphragmatic defect | |
| fr | Anomalies du péricarde et du diaphragme | |
| de | Perikarddefekt - Hernia diaphragmatica | Perikard- und Zwerchfell-Defekt |
| es | Defecto pericárdico y diafragmático | |
| it | Difetto del pericardio e del diaframma | |
| nl | Pericard- en diafragmadefect | |
| pt | Defeito do pericárdio e diafragma | Anomalia de pericárdio-hérnia diafragmática |
| pl | Defekt osierdzia i przepony | |
| cs | Defekt perikardu a bránice | |
| uk | Дефект перикарда та діафрагми | |
| zh | 心包和膈肌缺损 | |
| tr | Perikardiyal ve diyafragmatik defekt |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q79.1 | NTBT | attributed | validated |
| MONDO | 0017301 | E | validated | |
| UMLS | C4510305 | 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 (2):
- ORPHA:183530Rare genetic developmental defect during embryogenesis
rare genetic diseases - ORPHA:108979Syndromic diaphragmatic or abdominal wall malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
20 annotations · validated 2018-01-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0009112 | Absent left hemidiaphragm | |
| HP:0011635 | Partial diaphragmatic absence of pericardium | |
| Frequent (79-30%) | ||
| HP:0012418 | Hypoxemia | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0002089 | Pulmonary hypoplasia | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000766 | Abnormal sternum morphology | |
| HP:0001631 | Atrial septal defect | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0100749 | Chest pain | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0002566 | Intestinal malrotation | |
| HP:0002245 | Meckel diverticulum | |
| HP:0001718 | Mitral stenosis | |
| HP:0012718 | Morphological abnormality of the gastrointestinal tract | |
| HP:0001962 | Palpitations | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000767 | Pectus excavatum | |
| HP:0100632 | Pulmonary sequestration | |
| HP:0001636 | Tetralogy of Fallot | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 4003450[PMID]_17377736[PMID]_11560864[PMID]_14677749[PMID]_20219701[PMID]_20265782[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2847
- This record as JSON: /data/d/2847.json