ORPHA:264992
Genetic interstitial lung disease
Synonyms: Genetic ILD
- 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 interstitial lung disease | Genetic ILD |
| fr | Pneumopathie interstitielle génétique | ILD génétique |
| de | Interstitielle Lungenkrankheit, genetisch bedingte | ILD, genetisch bedingte |
| es | Enfermedad pulmonar intersticial genética | EPI genética · ILD genética |
| it | Pneumopatia interstiziale genetica | ILD genetica |
| nl | Genetische interstitiële longziekte | Genetische ILD |
| pt | Doença pulmonar intersticial genética | |
| pl | Śródmiąższowa choroba płuc uwarunkowana genetycznie | ILD uwarunkowana genetycznie |
| cs | Geneticky podmíněná intersticiální plicní nemoc | Geneticky podmíněná ILD |
| uk | Генетично обумовлене інтерстиціальне захворювання легень | Генетична ILD |
| zh | 遗传性间质性肺病 | 遗传性ILD |
| tr | Genetik interstisyel akciğer hastalığı | GenetiK ILD |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5679736 | 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:156610Rare genetic respiratory disease
rare genetic diseases
Children (12):
- ORPHA:35262916q24.1 microdeletion syndrome
- ORPHA:618899Acid sphingomyelinase deficiency
- ORPHA:444092Autoimmune interstitial lung disease-arthritis syndrome
- ORPHA:217566Chronic respiratory distress with surfactant metabolism deficiency
- ORPHA:210122Congenital alveolar capillary dysplasia
- ORPHA:2414Congenital pulmonary lymphangiectasia
- ORPHA:621758Fibrosis-neurodegeneration-cerebral angiomatosis syndrome
- ORPHA:221043Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
- ORPHA:440392Interstitial lung disease due to SP-C deficiency
- ORPHA:306504Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
- ORPHA:137631Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
- ORPHA:100049Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
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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/264992
- This record as JSON: /data/d/264992.json