1362022003: Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Structural abnormality of brainstem (disorder)\Dysgenesis of the brainstem\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \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 hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \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\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Structural abnormality of brainstem (disorder)\Dysgenesis of the brainstem\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \General finding of soft tissue\Poor muscle tone (finding)\Neonatal hypotonia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Neonatal neuromuscular disorder\Neonatal hypotonia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Structural abnormality of brainstem (disorder)\Dysgenesis of the brainstem\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Structural abnormality of brainstem (disorder)\Dysgenesis of the brainstem\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Neonatal finding (finding)\Neonatal disorder\...
• \Neonatal respiratory system disorder\Respiratory insufficiency syndrome of newborn\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Neonatal neuromuscular disorder\Neonatal hypotonia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Respiratory finding\Disorder of respiratory system (disorder)\...
• \Respiratory insufficiency (disorder)\Respiratory insufficiency syndrome of newborn\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Fetal and/or neonatal disorder of respiratory system (disorder)\Neonatal respiratory system disorder\Respiratory insufficiency syndrome of newborn\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Muscle finding\Finding of muscle tone (finding)\Poor muscle tone (finding)\Neonatal hypotonia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Neonatal neuromuscular disorder\Neonatal hypotonia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Musculoskeletal finding\Poor muscle tone (finding)\Neonatal hypotonia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myoneural disorder\Neonatal neuromuscular disorder\Neonatal hypotonia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (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\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Fetal and/or neonatal disorder\Neonatal disorder\Neonatal respiratory system disorder\Respiratory insufficiency syndrome of newborn\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Fetal and/or neonatal disorder\Neonatal disorder\Neonatal neuromuscular disorder\Neonatal hypotonia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of respiratory system (disorder)\Neonatal respiratory system disorder\Respiratory insufficiency syndrome of newborn\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Myoneural disorder\Neonatal neuromuscular disorder\Neonatal hypotonia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Structural abnormality of brainstem (disorder)\Dysgenesis of the brainstem\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of body system\Disorder of respiratory system (disorder)\Respiratory insufficiency (disorder)\Respiratory insufficiency syndrome of newborn\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of body system\Disorder of respiratory system (disorder)\Fetal and/or neonatal disorder of respiratory system (disorder)\Neonatal respiratory system disorder\Respiratory insufficiency syndrome of newborn\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myoneural disorder\Neonatal neuromuscular disorder\Neonatal hypotonia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Neonatal neuromuscular disorder\Neonatal hypotonia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \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\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of brain stem (disorder)\Structural abnormality of brainstem (disorder)\Dysgenesis of the brainstem\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Neonatal neuromuscular disorder\Neonatal hypotonia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Developmental 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\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the brainstem\Congenital hypoplasia of brainstem\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital malformation of cerebellum (disorder)\Congenital cerebellar hypoplasia\Congenital pontocerebellar hypoplasia\Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2025. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5443872019	Fatal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5443873012	Fatal pontocerebellar hypoplasia, hypotonia, respiratory distress syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5443874018	Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5443875017	Lethal pontocerebellar hypoplasia, hypotonia, respiratory insufficiency syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5443876016	A rare multiple congenital anomalies/dysmorphic syndrome characterized by pontocerebellar hypoplasia, hypotonia and respiratory insufficiency. Cardiac anomalies (particularly hypertrophic cardiomyopathy), eye manifestations (congenital cataracts, corneal clouding), seizures and facial dysmorphism (including microcephaly, bitemporal narrowing, absence of eyelashes, short palpebral fissures, small and low-set ears, anteverted nares, microstomia, and micrognathia) are present in the majority of the patients. Additional findings such as hepatosplenomegaly, edema, micropenis/cryptorchidism, hypoglycemia, hypernatremia, increased triglycerides, elevated plasma lactate and decreased plasma cholesterol were reported. Brain imaging may reveal simplified/delayed cortical gyration, dilated ventricles, and periventricular or diffuse white matter abnormalities. It is mostly caused by biallelic deletions in the ATAD3 gene cluster (ATAD3A, ATAD3B and ATAD3C) or by point mutations in the ATAD3A gene. Even though the syndrome is mostly neonatally lethal, some patients, regardless of the type of the mutation/deletion they harbor, may have a less severe condition and may survive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5443877013	A rare multiple congenital anomalies/dysmorphic syndrome characterised by pontocerebellar hypoplasia, hypotonia and respiratory insufficiency. Cardiac anomalies (particularly hypertrophic cardiomyopathy), eye manifestations (congenital cataracts, corneal clouding), seizures and facial dysmorphism (including microcephaly, bitemporal narrowing, absence of eyelashes, short palpebral fissures, small and low-set ears, anteverted nares, microstomia, and micrognathia) are present in the majority of the patients. Additional findings such as hepatosplenomegaly, oedema, micropenis/cryptorchidism, hypoglycaemia, hypernatraemia, increased triglycerides, elevated plasma lactate and decreased plasma cholesterol were reported. Brain imaging may reveal simplified/delayed cortical gyration, dilated ventricles, and periventricular or diffuse white matter abnormalities. It is mostly caused by biallelic deletions in the ATAD3 gene cluster (ATAD3A, ATAD3B and ATAD3C) or by point mutations in the ATAD3A gene. Even though the syndrome is mostly neonatally lethal, some patients, regardless of the type of the mutation/deletion they harbour, may have a less severe condition and may survive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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Reference Sets

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

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