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Lichtenstein-syndroom (aandoening)
Lichtenstein-syndroom
syndroom van Lichtenstein
Lichtenstein syndrome
A rare genetic disease characterized by frequent infections associated with neutropenia and IgA deficiency, in combination with osteoporosis and skeletal anomalies, such as posterior spinal arch fusion defect, metacarpal subluxation, syndactyly, and camptodactyly. Reported dysmorphic features include synophrys, anteverted nostrils, and single palmar crease. There have been no further descriptions in the literature since 1972.
Id763668009
StatusPrimitive
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD84.8
TermOverige gespecificeerde immunodeficiƫnties
SNOMED CT to Orphanet simple map2390
SNOMED CT to ICD-10 extended map
TargetD70
RuleTRUE
AdviceALWAYS D70 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetD80.2
RuleTRUE
AdviceALWAYS D80.2
CorrelationSNOMED CT source code to target map code correlation not specified