ORPHA:331232

Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells

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

12 of 12 languages

Lang	Name	Synonyms
en	Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
fr	Déficit immunitaire avec déficit d'isotype ou de chaînes légères et nombre normal de cellules B	Immunodéficience avec déficit d'isotype ou de chaînes légères et nombre normal de cellules B
de	Immundefekt mit Isotypen- oder Leichtketten-Mangel und normaler Anzahl B-Zellen
es	Inmunodeficiencia con isotipo o deficiencias de cadena ligera con número normal de células B
it	Immunodeficienza con deficit delle catene leggere e degli isotipi associati a un numero normale di cellule B
nl	Immuundeficiëntie met isotype of lichte keten-deficiënties met normaal aantal B-cellen
pt	Imunodeficiência com deficiências do isotipo ou da cadeia leve com número normal de células B
pl	Niedobór odporności z deficytami izotypu lub łańcucha lekkiego z prawidłową liczbą komórek B
cs	Imunodeficience s isotypem nebo deficitem lehkého řetězce s normálním počtem B-buněk
uk	Імунодефіцит з дефіцитом ізотипів або легких ланцюгів з нормальною кількістю В-клітин
zh	B细胞正常性免疫缺陷伴同型或轻链缺陷
tr	Normal sayıda B hücresi ile izotip veya hafif zincir eksiklikleri ile seyreden immün yetmezlik

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
MONDO	18038	E		validated
UMLS	C5680939	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:101977Immunodeficiency due to predominantly antibodies defect
rare genetic diseases; rare immunological diseases

Children (5):

Codes that Orphanet moved or referred to this one:

ORPHA:101980OBSOLETE: Disease with isotype or light chain deficiencies with normal numbers of B cells referred to · inactive

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/331232
This record as JSON: /data/d/331232.json