722207000: Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Evaluation finding\Measurement finding\Finding of substance level\Protein level - finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital dyserythropoietic anaemia\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Congenital dyserythropoietic anaemia\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Congenital anaemia\Congenital dyserythropoietic anaemia\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Congenital anaemia\Congenital dyserythropoietic anaemia\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Congenital anaemia\Congenital dyserythropoietic anaemia\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital dyserythropoietic anaemia\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Congenital dyserythropoietic anaemia\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital dyserythropoietic anaemia\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital dyserythropoietic anaemia\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Viscus structure finding\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Pancreatic insufficiency\Exocrine pancreatic insufficiency\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Digestive system finding\Finding of pancreas\Disorder of pancreas\Pancreatic insufficiency\Exocrine pancreatic insufficiency\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Disorder of pancreas\Pancreatic insufficiency\Exocrine pancreatic insufficiency\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of pancreas\Pancreatic insufficiency\Exocrine pancreatic insufficiency\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Pancreatic insufficiency\Exocrine pancreatic insufficiency\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Disorder of pancreas\Pancreatic insufficiency\Exocrine pancreatic insufficiency\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of pancreas\Pancreatic insufficiency\Exocrine pancreatic insufficiency\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Anaemia\Congenital anaemia\Congenital dyserythropoietic anaemia\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Anaemia\Anaemia due to decreased red cell production\Congenital dyserythropoietic anaemia\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Red blood cell disorder\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Finding of head and neck region\Head finding\...
• \Skull finding\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disorder of head\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Blood disease\Anaemia\Congenital anaemia\Congenital dyserythropoietic anaemia\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Blood disease\Anaemia\Anaemia due to decreased red cell production\Congenital dyserythropoietic anaemia\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pancreas\Pancreatic insufficiency\Exocrine pancreatic insufficiency\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Disorder of pancreas\Pancreatic insufficiency\Exocrine pancreatic insufficiency\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Disorder of pancreas\Pancreatic insufficiency\Exocrine pancreatic insufficiency\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Metabolic disease\Mitochondrial cytopathy\Cytochrome-c oxidase deficiency\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Metabolic disease\Enzymopathy\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Metabolic disease\Metabolic bone disease\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Mitochondrial respiratory chain complexes disorder\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Congenital disease\Congenital anaemia\Congenital dyserythropoietic anaemia\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3331151010	Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3331152015	Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3331153013	Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3331154019	This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. It has been described in four children, three boys and one girl, from two consanguineous families. The disease is due to a mutation in the COX4I2 gene, encoding a mitochondrial cytochrome C oxidase sub-unit. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core
3331155018	This syndrome is characterised by exocrine pancreatic insufficiency, dyserythropoietic anaemia, and calvarial hyperostosis. It has been described in four children, three boys and one girl, from two consanguineous families. The disease is due to a mutation in the COX4I2 gene, encoding a mitochondrial cytochrome C oxidase sub-unit. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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