Autosomal dominant hereditary disorder	Choanal atresia	Congenital anomaly of skeletal bone	Congenital deformity of nose	Congenital hypoplasia of part of upper limb	Developmental hereditary disorder	Digestive system hereditary disorder	Disorder of external nose	Finding of bone of upper limb	Hereditary disorder of musculoskeletal system	Multiple malformation syndrome with facial-limb defects as major feature
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Choanal atresia with radial ray hypoplasia (disorder)
	Choanal atresia with radial ray hypoplasia
	Goldblatt Viljoen syndrome
	An extremely rare syndrome with characteristics of radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. Transmitted as an autosomal dominant trait.
	syndroom van choanale atresie met hypoplasie van radius
	syndroom van Goldblatt-Viljoen

Id	232373003
Status	Primitive

Associated morphology	Deformity
Finding site	External nose structure
Occurrence	Congenital
Pathological process	Pathological developmental process

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

Associated morphology	Congenital atresia
Finding site	Structure of choana
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q30.0
Rule	TRUE
Advice	ALWAYS Q30.0
Correlation	SNOMED CT source code to target map code correlation not specified