ORPHA:674648

Syndrome with congenital phagocyte functional defect as a major feature

Synonyms: Syndrome with congenital functional defect of phagocyte as a major feature · Syndrome with constitutional functional phagocyte defect as a major feature

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.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	Syndrome with congenital phagocyte functional defect as a major feature	Syndrome with congenital functional defect of phagocyte as a major feature · Syndrome with constitutional functional phagocyte defect as a major feature
fr	Syndrome avec déficit fonctionnel congénital des phagocytes comme manifestation majeure	Syndrome avec déficit fonctionnel constitutionnel des phagocytes comme manifestation majeure
de	Syndrom mit kongenitalem Phagozyten-Funktionsdefekt als Hauptmerkmal	Syndrom mit kongenitalem Funktionsdefekt der Phagozyten als Hauptmerkmal · Syndrom mit konstitutionellem funktionellem Phagozytendefekt
es	Síndrome con defecto funcional congénito de los fagocitos como característica principal	Síndrome con defecto funcional constitucional de los fagocitos como característica principal
it	Sindrome con difetto funzionale congenito della fagocitosi come caratteristica principale	Sindrome con difetto funzionale congenito della fagocitosi come caratteristica principale · Sindrome con difetto funzionale costituzionale della fagocitosi come caratteristica principale
nl	Syndroom met congenitaal functioneel defect van fagocyt als hoofdkenmerk	Syndroom met constitutioneel functioneel defect van fagocyt als hoofdkenmerk
pt	Síndrome com defeito funcional fagocítico congénito como característica principal	Síndrome com defeito constitucional funcional fagocítico · Síndrome com defeito funcional dos fagócitos congénito como característica principal
pl	Zespół z wrodzonym defektem czynnościowym fagocytów jako główną cechą	= en
cs	Syndrom s vrozeným funkčním defektem fagocytů jako hlavním příznakem	= en
uk	Синдром з вродженим функціональним дефектом фагоцитів як основною ознакою	Синдром з вродженим функціональним дефектом фагоцитів як основною ознакою · Синдром з конституційним функціональним дефектом фагоцитів як основною ознакою

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
UMLS	C5925089	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):

ORPHA:98004Rare immune disease

Parents in the classifications (1):

ORPHA:183681Congenital functional phagocyte defect
rare genetic diseases; rare immunological diseases

Children (4):

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

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

Sources for this card

Orphanet page: orpha.net/en/disease/detail/674648
This record as JSON: /data/d/674648.json