Autosomal recessive hereditary disorder	Congenital anomaly of lower limb	Congenital complete absence of bilateral upper limbs	Developmental hereditary disorder
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Autosomal recessive amelia (disorder)
	Autosomal recessive amelia
	Syndrome with characteristics of absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non-consanguineous parents.
	autosomaal recessieve amelie

Id	726735000
Status	Primitive

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

Associated morphology	Agenesis
Finding site	Entire left upper extremity
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Agenesis
Finding site	Entire right upper extremity
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q73.0
Rule	TRUE
Advice	ALWAYS Q73.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified