Autosomal dominant hereditary disorder	Congenital maxillary hypoplasia	Developmental hereditary disorder	Hereditary disorder of musculoskeletal system	Skeletal dysplasia
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Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder)
	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.
	syndroom van metafysaire dysplasie, hypoplasie van maxilla en brachydactylie

Id	724145007
Status	Primitive

Associated morphology	Dysplasia
Finding site	Structure of metaphysis
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Hypoplasia
Finding site	Bone structure of maxilla
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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