ORPHA:156610
Rare genetic respiratory disease
- 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 genetic respiratory disease | |
| fr | Maladie respiratoire génétique rare | |
| de | Seltene genetisch bedingte Krankheit des respiratorischen Systems | |
| es | Enfermedades respiratorias genéticas raras | |
| it | Malattia respiratoria genetica | |
| nl | Zeldzame genetische ademhalingsziekte | |
| pt | Doença respiratória genética | |
| pl | Rzadka genetyczna choroba układu oddechowego | |
| cs | Vzácné geneticky podmíněné respirační nemoci | |
| uk | Рідкісне генетично обумовлене респіраторне захворювання | |
| zh | 罕见遗传性呼吸道疾病 | |
| tr | Nadir genetik solunum hastalığı |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15510 | E | validated | |
| UMLS | C5680642 | 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 (1):
- ORPHA:98053Rare genetic disease
rare genetic diseases
Children (23):
- ORPHA:60Alpha-1-antitrypsin deficiency
- ORPHA:122Birt-Hogg-Dubé syndrome
- ORPHA:661Congenital central hypoventilation syndrome
- ORPHA:586Cystic fibrosis
- ORPHA:2903Familial spontaneous pneumothorax
- ORPHA:264992Genetic interstitial lung disease
- ORPHA:183622Genetic respiratory malformation
- ORPHA:99803Haddad syndrome
- ORPHA:60033Idiopathic bronchiectasis
- ORPHA:422Idiopathic/heritable pulmonary arterial hypertension
- ORPHA:538Lymphangioleiomyomatosis
- ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- ORPHA:244Primary ciliary dyskinesia
- ORPHA:247522Primary ciliary dyskinesia-retinitis pigmentosa syndrome
- ORPHA:60025Pulmonary alveolar microlithiasis
- ORPHA:431353Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis
- ORPHA:692812RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome
- ORPHA:293987Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
- ORPHA:425120STING-associated vasculopathy with onset in infancy
- ORPHA:3167Siegler-Brewer-Carey syndrome
- ORPHA:168593Sudden infant death-dysgenesis of the testes syndrome
- ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiency
- ORPHA:3471Young syndrome
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/156610
- This record as JSON: /data/d/156610.json