autosomaal dominante hereditaire aandoening	bevinding betreffende milt	congenitale dysplasie van extremiteit	congenitale splenomegalie	dysostose	hereditaire aandoening van bewegingsapparaat	hereditaire aandoening van trombocyt	hereditaire ontwikkelingsstoornis	structurele afwijking van bot van extremiteit	trombocytose
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trombocytose met defect van distale extremiteit (aandoening)
	trombocytose met defect van distale extremiteit
	Thrombocythemia with distal limb defect
	Hereditary thrombocytosis with transverse limb defect Familial thrombocytosis with transverse limb defect
	Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.

Id	771511005
Status	Primitive

Associated morphology	dysplasie
Finding site	botstructuur van extremiteit
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	vergroting
Finding site	gehele milt
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Has interpretation	boven referentiebereik
Interprets	Platelet count

Has interpretation	afwijkend
Interprets	hemostase

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.2
Term	Congenitale gestoorde-ontwikkelingssyndromen van hoofdzakelijk extremiteiten

SNOMED CT to Orphanet simple map

329319

SNOMED CT to ICD-10 extended map

Target	Q87.2
Rule	TRUE
Advice	ALWAYS Q87.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified