acromesomele dysplasie	autosomaal dominante hereditaire aandoening	hereditaire aandoening van bewegingsapparaat	hereditaire ontwikkelingsstoornis	syndroom van partiële monosomie 8q
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8q13-microdeletiesyndroom (aandoening)
	8q13-microdeletiesyndroom
	syndroom van Verloes-David monosomie 8q13
	8q13 microdeletion syndrome
	Verloes David syndrome Monosomy 8q13 Mesomelic dysplasia with acral synostoses Verloes David Pfeiffer type Mesomelia synostoses syndrome Verloes David Pfeiffer type
	A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies.

Id	724147004
Status	Primitive

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

Associated morphology	deletie van lange arm
Finding site	chromosomenpaar 8
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	partiële monosomie
Finding site	chromosomenpaar 8
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

SNOMED CT to Orphanet simple map

2496

SNOMED CT to ICD-10 extended map

Target	Q93.5
Rule	TRUE
Advice	ALWAYS Q93.5 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified