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syndroom van nefropathie, neuropathie en schildklieraandoening bij trombocytopenie (aandoening)
syndroom van nefropathie, neuropathie en schildklieraandoening bij trombocytopenie
thyrocerebrorenaal syndroom
Thyrocerebrorenal syndrome
Cutler Bass Romshe syndrome
Syndrome with characteristics of renal, neurologic and thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait.
Id733096007
StatusPrimitive
Finding sitestructuur van cerebrum
Occurrencecongenitaal
Has interpretationonder referentiebereik
InterpretsPlatelet count
Finding sitestructuur van nier
Occurrencecongenitaal
Has interpretationafwijkend
Interpretshemostase
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map3327
SNOMED CT to ICD-10 extended map
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified