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autosomaal recessieve T-cel negatieve B-cel positieve ernstige gecombineerde immunodeficiëntie door deficiëntie van tyrosinefosfatasereceptor type C (aandoening)
autosomaal recessieve T-cel negatieve B-cel positieve ernstige gecombineerde immunodeficiëntie door deficiëntie van tyrosinefosfatasereceptor type C
autosomaal recessieve T-cel negatieve B-cel positieve SCID door CD45-deficiëntie
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to protein tyrosine phosphatase receptor type C deficiency
A rare monogenic primary immunodeficiency disorder with characteristics of lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. Caused by homozygous or compound heterozygous mutation on the CD45 gene on chromosome 1q31.
Id1229941002
StatusPrimitive
Finding sitestructuur van lichaamssysteem
Occurrencecongenitaal
Pathological processafwijkend immuunproces
SNOMED CT to Orphanet simple map169157
SNOMED CT to ICD-10 extended map
TargetD81.2
RuleTRUE
AdviceALWAYS D81.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified