Autosomal recessive hereditary disorder	Congenital hypoplasia of ulna	Developmental hereditary disorder	Global developmental delay	Hereditary disorder of musculoskeletal system	Intellectual disability	Multiple malformation syndrome with facial-limb defects as major feature
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Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
	Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion.
	syndroom van korte ulna, dysmorfie, hypotonie en verstandelijke beperking
	syndroom van korte ulna, dysmorfie, hypotonie en mentale retardatie syndroom van korte ulna, dysmorfie, hypotonie en verstandelijke handicap

Id	773556006
Status	Primitive

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

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

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified