autosomaal dominante hereditaire aandoening	congenitale hypoplasie van maxilla	hereditaire aandoening van bewegingsapparaat	hereditaire ontwikkelingsstoornis	skeletdysplasie
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syndroom van metafysaire dysplasie, hypoplasie van maxilla en brachydactylie (aandoening)
	syndroom van metafysaire dysplasie, hypoplasie van maxilla en brachydactylie
	Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
	Syndrome with characteristics of metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait. There is evidence this syndrome is caused by heterozygous duplication resulting in a gain of function in the RUNX2 gene on chromosome 6p21.

Id	724145007
Status	Primitive

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

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

DHD Diagnosis thesaurus reference set

SNOMED CT to Orphanet simple map

2504

SNOMED CT to ICD-10 extended map

Target	Q78.5
Rule	TRUE
Advice	ALWAYS Q78.5 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	K07.0
Rule	TRUE
Advice	ALWAYS K07.0
Correlation	SNOMED CT source code to target map code correlation not specified