autosomaal dominante hereditaire aandoening	congenitale afwijking van extremiteit	hereditaire aandoening van bewegingsapparaat	hereditaire aandoening van erytrocyt	hereditaire ontwikkelingsstoornis	macrocytose zonder anemie	osteosarcoom van bot	polymalformatief syndroom met defect van extremiteit als voornaamst kenmerk
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syndroom van osteosarcoom, misvorming van extremiteit en erytroïde macrocytemie (aandoening)
	syndroom van osteosarcoom, misvorming van extremiteit en erytroïde macrocytemie
	Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
	OSLAM syndrome OSLAM (osteosarcoma, limb anomalies, erythroid macrocytosis) syndrome
	Syndrome characterized by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangia, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anemia. It has been described in three out of nine children from one family.

Id	733064004
Status	Primitive

Associated morphology	osteosarcoom
Finding site	botstructuur

Associated morphology	morfologische afwijking
Finding site	structuur van extremiteit
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Finding site	erytrocyt
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

SNOMED CT to Orphanet simple map

2760

SNOMED CT to ICD-10 extended map

Target	C41.9
Rule	TRUE
Advice	ALWAYS C41.9 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION \| POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q74.8
Rule	TRUE
Advice	ALWAYS Q74.8
Correlation	SNOMED CT source code to target map code correlation not specified

Target	D75.8
Rule	TRUE
Advice	ALWAYS D75.8
Correlation	SNOMED CT source code to target map code correlation not specified