aandoening van schildklier	autosomaal recessieve hereditaire aandoening	congenitale nefropathie	congenitale neuropathie	congenitale trombocytopenie	encefalopathie	hereditaire aandoening van endocrien systeem	hereditaire aandoening van zenuwstelsel	hereditaire nefropathie	hereditaire trombocytopenie
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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.

Id	733096007
Status	Primitive

Finding site	structuur van cerebrum
Occurrence	congenitaal

Finding site	structuur van schildklier
Occurrence	congenitaal

Has interpretation	onder referentiebereik
Interprets	Platelet count

Finding site	structuur van nier
Occurrence	congenitaal

Has interpretation	afwijkend
Interprets	hemostase

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.8
Term	Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd

SNOMED CT to Orphanet simple map

3327

SNOMED CT to ICD-10 extended map

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified