raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:723

Pneumocystosis

Type
Disease
Group
Disorder
Inheritance
Not applicable
Age of onset
All ages
Status
active

Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus <i>Pneumocystis jiroveci</i>. The prevalence is unknown. <i>Pneumocystis jiroveci</i> is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enPneumocystosis
frPneumocystose
dePneumozystose
esNeumocistosis
itPneumocitosi
nlPneumocystose
ptPneumocistose
plPneumocystoza
csPneumocystóza
ukПневмоцистоз
zh肺孢子虫病
trPnömositoz

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10B48.5+Especificvalidated
ICD-10J17.2*NTBTindexvalidated
ICD-111F2GEspecificvalidated
MONDO0019121Evalidated
MeSHD011020Evalidated
UMLSC5779637Evalidated
GARD4386Evalidated
MedDRA10035662Evalidated

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):

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

1 record
TypeClassValueAreaQualificationValidationSource
Point prevalenceUnknown—WorldwideClass onlyValidatedORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

23 annotations · validated 2020-04-15
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0011949Acute infectious pneumonia
HP:0002094Dyspnea
HP:0001945Fever
HP:0012418Hypoxemia
HP:0020102Pneumocystis jirovecii pneumonia
Frequent (79-30%)
HP:0011991Abnormal neutrophil count
HP:0025395Combined cystic and ground-glass pattern on pulmonary HRCT
HP:0002875Exertional dyspnea
HP:0002721Immunodeficiency
HP:0010702Increased circulating immunoglobulin concentration
HP:0006515Interstitial pneumonitis
HP:0031246Nonproductive cough
HP:0002202Pleural effusion
HP:0002878Respiratory failure
HP:0004887Respiratory failure requiring assisted ventilation
HP:0002093Respiratory insufficiency
HP:0001824Weight loss
Occasional (29-5%)
HP:0031863Bloodstream infectious agent
HP:0009098Chronic oral candidiasis
HP:0025435Increased circulating lactate dehydrogenase concentration
HP:0005948Multiple pulmonary cysts
HP:0002664Neoplasm
HP:0032177Parenchymal consolidation

Run the differential on the 5 obligate / very frequent terms

Annotation source: 26281787[PMID]_16255399[PMID]_23209406[PMID]_29635251[PMID]

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Sources for this card