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syndroom van afwezige digitus I, kleine gestalte en immunodeficiëntie (aandoening)
syndroom van afwezige digitus I, kleine gestalte en immunodeficiëntie
syndroom van afwezige duim, kleine gestalte en immunodeficiëntie
Absent thumb with short stature and immunodeficiency syndrome
An exceedingly rare autosomal recessive immune disease with characteristics of thumb aplasia, short stature with skeletal abnormalities and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.
Id719685004
StatusPrimitive
Associated morphologyaplasia
Finding sitegehele digitus I van hand
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Pathological processafwijkend immuunproces
referentieset met complexe 'mapping' naar ICD-10
TargetD82.8
RuleTRUE
AdviceALWAYS D82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1
CorrelationSNOMED CT source code to target map code correlation not specified