Diffuse alveolar hemorrhage
- Type
- Clinical syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Elderly, Infancy
- Status
- active
A rare clinical situation for which there is a European and/or American orphan designation. Characteristics include diffuse bleeding into the alveolar spaces that originate from the pulmonary microvasculature, including the alveolar capillaries, arterioles and venules. Patients present with cough, dyspnea, chest pain, fever, anemia and hemoptysis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Diffuse alveolar hemorrhage | |
| fr | Hémorragie alvéolaire diffuse | |
| de | Hämorrhagie, alveoläre diffuse | |
| es | Hemorragia alveolar difusa | |
| it | Emorragia alveolare diffusa | |
| nl | Diffuse alveolaire hemorragie | |
| pt | Hemorragia alveolar difusa | |
| pl | Rozlane krwawienie pęcherzykowe | |
| cs | Difuzní alveolární hemoragie | |
| uk | Дифузний альвеолярний крововилив | |
| zh | 弥漫性肺泡出血 | |
| tr | Yaygın alveolar kanama |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | R04.8 | NTBT | attributed | validated |
| ICD-11 | MD23 | NTBT | index | validated |
| MONDO | 0019540 | E | validated | |
| UMLS | C4476767 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:101944Rare pulmonary disease
rare respiratory diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | European Medicines Agency[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
34 annotations · validated 2020-03-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002113 | Pulmonary infiltrates | |
| Frequent (79-30%) | ||
| HP:0001903 | Anemia | |
| HP:0002960 | Autoimmunity | |
| HP:0012735 | Cough | |
| HP:0003565 | Elevated erythrocyte sedimentation rate | |
| HP:0001945 | Fever | |
| HP:0025179 | Ground-glass opacification on pulmonary HRCT | |
| HP:0002105 | Hemoptysis | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0000152 | Abnormality of head or neck | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0000951 | Abnormality of the skin | |
| HP:0003453 | Antineutrophil antibody positivity | |
| HP:0003493 | Antinuclear antibody positivity | |
| HP:0003613 | Antiphospholipid antibody positivity | |
| HP:0100749 | Chest pain | |
| HP:0005421 | Decreased circulating complement C3 concentration | |
| HP:0045042 | Decreased circulating complement C4 concentration | |
| HP:0002094 | Dyspnea | |
| HP:0003259 | Elevated circulating creatinine concentration | |
| HP:0000790 | Hematuria | |
| HP:0012418 | Hypoxemia | |
| HP:0045050 | Increased DLCO | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0000093 | Proteinuria | |
| HP:0004887 | Respiratory failure requiring assisted ventilation | |
| HP:0002923 | Rheumatoid factor positive | |
| HP:0001873 | Thrombocytopenia | |
| Very rare (<4-1%) | ||
| HP:0006536 | Airway obstruction | |
| HP:0025174 | Irregular septal thickening on pulmonary HRCT | |
| HP:0002206 | Pulmonary fibrosis | |
| HP:0030950 | Pulmonary venous hypertension | |
| HP:0002091 | Restrictive ventilatory defect | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 28732837[PMID]_20442117[PMID]_24791616[PMID]_22963805[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90060
- This record as JSON: /data/d/90060.json