1300190004: Congenital pontocerebellar hypoplasia type 12 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Congenital deformity (disorder)\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Congenital pontocerebellar hypoplasia type 12
• \Deformity (finding)\Congenital deformity (disorder)\Arthrogryposis\Inherited arthrogryposis\Congenital pontocerebellar hypoplasia type 12
• \Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Congenital pontocerebellar hypoplasia type 12
• \Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Congenital pontocerebellar hypoplasia type 12
• \Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Congenital pontocerebellar hypoplasia type 12
• \Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Congenital pontocerebellar hypoplasia type 12
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Congenital anomaly of spinal cord\Spinal cord hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Congenital pontocerebellar hypoplasia type 12
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord\Spinal cord hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Finding of back (finding)\Finding of spinal region\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Congenital pontocerebellar hypoplasia type 12
• \Finding of back (finding)\Finding of spinal region\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord\Spinal cord hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Congenital anomaly of spinal cord\Spinal cord hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Congenital pontocerebellar hypoplasia type 12
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord\Spinal cord hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Finding of back (finding)\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Congenital anomaly of spinal cord\Spinal cord hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Head finding (finding)\Finding of head circumference (finding)\Microcephaly (finding)\Fetal microcephaly (disorder)\Congenital pontocerebellar hypoplasia type 12
• \Head finding (finding)\Finding of brain\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Congenital pontocerebellar hypoplasia type 12
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Congenital pontocerebellar hypoplasia type 12
• \Head finding (finding)\Finding of brain\Disorder of brain\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Head finding (finding)\Finding of brain\Disorder of brain\Extrapyramidal disease\Congenital pontocerebellar hypoplasia type 12
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Congenital pontocerebellar hypoplasia type 12
• \Head finding (finding)\Disorder of head (disorder)\Fetal microcephaly (disorder)\Congenital pontocerebellar hypoplasia type 12
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Congenital pontocerebellar hypoplasia type 12
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Congenital pontocerebellar hypoplasia type 12
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Congenital pontocerebellar hypoplasia type 12
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Congenital pontocerebellar hypoplasia type 12
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Extrapyramidal disease\Congenital pontocerebellar hypoplasia type 12
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Body measurement finding\Finding of head circumference (finding)\Microcephaly (finding)\Fetal microcephaly (disorder)\Congenital pontocerebellar hypoplasia type 12
• \Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Congenital pontocerebellar hypoplasia type 12
• \Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Congenital pontocerebellar hypoplasia type 12
• \Finding of movement\Movement disorder\Extrapyramidal disease\Congenital pontocerebellar hypoplasia type 12
• \Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Congenital pontocerebellar hypoplasia type 12
• \Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Congenital pontocerebellar hypoplasia type 12
• \Central nervous system finding\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Congenital pontocerebellar hypoplasia type 12
• \Central nervous system finding\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord\Spinal cord hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Central nervous system finding\Finding of brain\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Congenital pontocerebellar hypoplasia type 12
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Congenital pontocerebellar hypoplasia type 12
• \Central nervous system finding\Finding of brain\Disorder of brain\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Central nervous system finding\Finding of brain\Disorder of brain\Extrapyramidal disease\Congenital pontocerebellar hypoplasia type 12
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of spinal cord\Spinal cord hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Congenital pontocerebellar hypoplasia type 12
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Congenital pontocerebellar hypoplasia type 12
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Extrapyramidal disease\Congenital pontocerebellar hypoplasia type 12
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Congenital pontocerebellar hypoplasia type 12
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord\Spinal cord hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Foetal finding\Foetal disorder\...
• \Disorder of fetal structure\Fetal growth abnormality (disorder)\Fetal microcephaly (disorder)\Congenital pontocerebellar hypoplasia type 12
• \Fetus with hereditary disease\Congenital pontocerebellar hypoplasia type 12
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Congenital pontocerebellar hypoplasia type 12
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Congenital pontocerebellar hypoplasia type 12
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Congenital pontocerebellar hypoplasia type 12
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Congenital pontocerebellar hypoplasia type 12
• \Musculoskeletal finding (finding)\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Congenital pontocerebellar hypoplasia type 12
• \Musculoskeletal finding (finding)\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Congenital pontocerebellar hypoplasia type 12
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Congenital pontocerebellar hypoplasia type 12
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Congenital pontocerebellar hypoplasia type 12
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Congenital pontocerebellar hypoplasia type 12
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Congenital pontocerebellar hypoplasia type 12
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of joint region\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of joint region\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Congenital pontocerebellar hypoplasia type 12
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Congenital pontocerebellar hypoplasia type 12
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Congenital pontocerebellar hypoplasia type 12
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Congenital pontocerebellar hypoplasia type 12
• \Disease\Genetic disease\Hereditary disease\Fetus with hereditary disease\Congenital pontocerebellar hypoplasia type 12
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of foetus and/or newborn\Foetal disorder\Disorder of fetal structure\Fetal growth abnormality (disorder)\Fetal microcephaly (disorder)\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of foetus and/or newborn\Foetal disorder\Fetus with hereditary disease\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Congenital anomaly of spinal cord\Spinal cord hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\Inherited arthrogryposis\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of spinal cord\Spinal cord hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of spinal cord\Spinal cord hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of spinal cord\Spinal cord hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Extrapyramidal disease\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord\Spinal cord hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of head (disorder)\Fetal microcephaly (disorder)\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of head (disorder)\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of head (disorder)\Disorder of brain\Disorder of brain stem (disorder)\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of head (disorder)\Disorder of brain\Extrapyramidal disease\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Movement disorder\Extrapyramidal disease\Congenital pontocerebellar hypoplasia type 12
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Congenital pontocerebellar hypoplasia type 12
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Congenital anomaly of spinal cord\Spinal cord hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Congenital anomaly of spinal cord\Spinal cord hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Congenital anomaly of spinal cord\Spinal cord hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Developmental disorder (disorder)\Disorder of fetal structure\Fetal growth abnormality (disorder)\Fetal microcephaly (disorder)\Congenital pontocerebellar hypoplasia type 12
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Inherited arthrogryposis\Congenital pontocerebellar hypoplasia type 12
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Congenital pontocerebellar hypoplasia type 12
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back (disorder)\Congenital anomaly of spine\Congenital anomaly of spinal cord\Spinal cord hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.\Congenital pontocerebellar hypoplasia type 12
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\Inherited arthrogryposis\Congenital pontocerebellar hypoplasia type 12
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of spinal cord\Spinal cord hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Congenital pontocerebellar hypoplasia type 12
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Congenital pontocerebellar hypoplasia type 12

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5298507019	COASY gene related pontocerebellar hypoplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5298508012	PCH12 - pontocerebellar hypoplasia type 12	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5298509016	Congenital pontocerebellar hypoplasia type 12	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5298510014	Congenital pontocerebellar hypoplasia type 12 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5298511013	A lethal form of pontocerebellar hypoplasia with characteristics of prenatal onset of microcephaly, hypoplasia of the cerebellum, brainstem, and spinal cord, dysmorphic craniofacial features such as sloping forehead and micrognathia, and multiple contractures. Supratentorial atrophy has also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5298507019	COASY gene related pontocerebellar hypoplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5298508012	PCH12 - pontocerebellar hypoplasia type 12	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5298509016	Congenital pontocerebellar hypoplasia type 12	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5298510014	Congenital pontocerebellar hypoplasia type 12 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5298511013	A lethal form of pontocerebellar hypoplasia with characteristics of prenatal onset of microcephaly, hypoplasia of the cerebellum, brainstem, and spinal cord, dysmorphic craniofacial features such as sloping forehead and micrognathia, and multiple contractures. Supratentorial atrophy has also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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