raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:183554

Genetic respiratory or mediastinal 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.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enGenetic respiratory or mediastinal malformation
frMalformation respiratoire et du médiastin d'origine génétique
deFehlbildung des respiratorischen Systems oder des Mediastinums, genetisch bedingte
esMalformación respiratoria o del mediastino de origen genético
itMalformazione genetica dell'apparato respiratorio o del mediastino
nlGenetische respiratoire of mediastinale malformatie
ptMalformação genética respiratória ou do mediastino
plWada układu oddechowego lub śródpiersia uwarunkowana genetycznie
csGeneticky podmíněné malformace dýchací soustavy nebo mediastina
ukГенетично обумовлена респіраторна або медіастинальна вада розвитку
zh遗传性呼吸系统/纵膈多发畸形
trGenetik solunum veya mediastinal malformasyon
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
UMLSC5680553Evalidated

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):

Children (1):

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card