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

• SNOMED CT Concept\constatation clinique\...
• \Evaluation finding\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\anémie dysérythropoïétique congénitale (trouble)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\numération des globules rouges basse (constatation)\Congenital anemia\anémie dysérythropoïétique congénitale (trouble)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\numération des globules rouges basse (constatation)\Congenital anemia\anémie dysérythropoïétique congénitale (trouble)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\Congenital anemia\anémie dysérythropoïétique congénitale (trouble)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\cytopénie (constatation)\numération des globules rouges basse (constatation)\Congenital anemia\anémie dysérythropoïétique congénitale (trouble)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\anémie dysérythropoïétique congénitale (trouble)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Evaluation finding\Measurement finding\Red blood cell count - finding\RBC count abnormal\numération des globules rouges basse (constatation)\Congenital anemia\anémie dysérythropoïétique congénitale (trouble)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\anémie dysérythropoïétique congénitale (trouble)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Viscus structure finding (finding)\constatation à propos d'un organe abdominal\constatation à propos du pancréas\Disorder of pancreas (disorder)\insuffisance pancréatique\Exocrine pancreatic insufficiency (disorder)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Digestive system finding (finding)\constatation à propos du pancréas\Disorder of pancreas (disorder)\insuffisance pancréatique\Exocrine pancreatic insufficiency (disorder)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of pancreas (disorder)\insuffisance pancréatique\Exocrine pancreatic insufficiency (disorder)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas (disorder)\insuffisance pancréatique\Exocrine pancreatic insufficiency (disorder)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\constatation à propos du pancréas\Disorder of pancreas (disorder)\insuffisance pancréatique\Exocrine pancreatic insufficiency (disorder)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas (disorder)\insuffisance pancréatique\Exocrine pancreatic insufficiency (disorder)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas (disorder)\insuffisance pancréatique\Exocrine pancreatic insufficiency (disorder)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\...
• \troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\anémie dysérythropoïétique congénitale (trouble)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \anémie\Congenital anemia\anémie dysérythropoïétique congénitale (trouble)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \anémie\anémie causée par une production diminuée d'érythrocytes\anémie dysérythropoïétique congénitale (trouble)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\anémie dysérythropoïétique congénitale (trouble)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Skull finding\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \affection de la tête\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Skull finding\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\maladie métabolique de l'os\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\anémie dysérythropoïétique congénitale (trouble)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\anémie dysérythropoïétique congénitale (trouble)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anémie\Congenital anemia\anémie dysérythropoïétique congénitale (trouble)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anémie\anémie causée par une production diminuée d'érythrocytes\anémie dysérythropoïétique congénitale (trouble)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\anémie dysérythropoïétique congénitale (trouble)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\anémie dysérythropoïétique congénitale (trouble)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Disorder of pancreas (disorder)\insuffisance pancréatique\Exocrine pancreatic insufficiency (disorder)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Disorder of pancreas (disorder)\insuffisance pancréatique\Exocrine pancreatic insufficiency (disorder)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\affection d'un système corporel\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\anémie dysérythropoïétique congénitale (trouble)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas (disorder)\insuffisance pancréatique\Exocrine pancreatic insufficiency (disorder)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\affection de la tête\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\trouble métabolique\Mitochondrial cytopathy\Cytochrome-c oxidase deficiency\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\trouble métabolique\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\trouble métabolique\Enzymopathy\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\trouble métabolique\maladie métabolique de l'os\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\Congenital disease\Congenital anemia\anémie dysérythropoïétique congénitale (trouble)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331152015	Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331153013	Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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