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skeletdysplasie met korte ledematen en ernstige gecombineerde immunodeficiëntie (aandoening)
skeletdysplasie met korte ledematen en ernstige gecombineerde immunodeficiëntie
skeletdysplasie met korte ledematen en ernstige gecombineerde immuundeficiëntie
Short-limb skeletal dysplasia with severe combined immunodeficiency
Achondroplasia-Swiss type agammaglobulinemia syndrome
Immunodeficiency, short limb dwarfism syndrome
Achondroplasia, severe combined immunodeficiency syndrome
An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.
Id789777007
StatusPrimitive
Finding sitestructuur van immuunsysteem
Occurrencecongenitaal
Pathological processafwijkend immuunproces
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van metafyse
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetD82.2
RuleTRUE
AdviceALWAYS D82.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified