Bowing of upper limb	Congenital bowing of long bone	Congenital deformity of bone of forearm	Multiple malformation syndrome with facial defects as major feature	Spondylometaphyseal dysplasia
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Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome (disorder)
	Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
	A rare genetic primary bone dysplasia disorder with characteristics of short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed.
	syndroom van spondylometafysaire dysplasie, gebogen onderarmen en faciale dysmorfie
	syndroom van spondylometafysaire dysplasie, gebogen onderarmen en congenitale afwijking van aangezicht

Id	782913006
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Bowing deformity
Finding site	Structure of bone of forearm
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Dysplasia
Finding site	Bone structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q77.8
Rule	TRUE
Advice	ALWAYS Q77.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified