726735000: autosomaal recessieve amelie (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of left upper extremity (disorder)\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of left upper extremity (disorder)\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of left upper extremity (disorder)\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of right upper extremity (disorder)\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of right upper extremity (disorder)\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of right upper extremity (disorder)\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital complete absence of limb\Congenital complete absence of upper limb\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital complete absence of limb\Congenital complete absence of upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Finding of upper limb\Absence of upper limb (finding)\Congenital absence of upper limb\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Finding of upper limb\Absence of upper limb (finding)\Congenital absence of upper limb\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Finding of upper limb\Absence of upper limb (finding)\Congenital absence of upper limb\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Finding of upper limb\Absence of upper limb (finding)\Congenital absence of upper limb\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Finding of upper limb\Absence of upper limb (finding)\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Finding of upper limb\Absence of upper limb (finding)\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of left upper extremity (disorder)\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of left upper extremity (disorder)\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of left upper extremity (disorder)\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of right upper extremity (disorder)\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of right upper extremity (disorder)\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of right upper extremity (disorder)\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive amelia (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive amelia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital complete absence of limb\Congenital complete absence of upper limb\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital complete absence of limb\Congenital complete absence of upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of left upper extremity (disorder)\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of left upper extremity (disorder)\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of left upper extremity (disorder)\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of right upper extremity (disorder)\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of right upper extremity (disorder)\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of right upper extremity (disorder)\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital complete absence of limb\Congenital complete absence of upper limb\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital complete absence of limb\Congenital complete absence of upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Autosomal recessive amelia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of left upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of right upper limb (disorder)\Bilateral congenital anomaly of upper limbs\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of right upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of right upper limb (disorder)\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of left upper limb (disorder)\Congenital absence of bilateral upper limbs (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital absence of left upper limb (disorder)\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital absence of upper limb\Congenital complete absence of upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital complete absence of limb\Congenital complete absence of upper limb\Congenital complete absence of right upper limb (disorder)\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital complete absence of limb\Congenital complete absence of upper limb\Congenital complete absence of left upper limb\Congenital complete absence of bilateral upper limbs (disorder)\Autosomal recessive amelia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3452314017	Autosomal recessive amelia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3452315016	Autosomal recessive amelia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6187341000146113	autosomaal recessieve amelie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6187351000146111	autosomaal recessieve amelie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3452316015	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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