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

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Pancreatic insufficiency\Exocrine pancreatic insufficiency\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)

\Head finding (finding)\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)

\Digestive system finding (finding)\Finding of pancreas\Disorder of pancreas\Pancreatic insufficiency\Exocrine pancreatic insufficiency\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of pancreas\Pancreatic insufficiency\Exocrine pancreatic insufficiency\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas\Pancreatic insufficiency\Exocrine pancreatic insufficiency\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Finding of pancreas\Disorder of pancreas\Pancreatic insufficiency\Exocrine pancreatic insufficiency\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas\Pancreatic insufficiency\Exocrine pancreatic insufficiency\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas\Pancreatic insufficiency\Exocrine pancreatic insufficiency\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\...

\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anemia\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)

\Anemia\Congenital anemia\Congenital dyserythropoietic anemia\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Anemia\Anemia due to decreased red cell production\Congenital dyserythropoietic anemia\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)

\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anemia\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)

\Procedure related finding\Evaluation finding\...

\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anemia\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\Congenital dyserythropoietic anemia\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Congenital dyserythropoietic anemia\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anemia\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Congenital anemia\Congenital dyserythropoietic anemia\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anemia\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\Congenital dyserythropoietic anemia\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)

\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anemia\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anemia\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Musculoskeletal finding\Bone finding\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\Bone finding\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\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 anemia, calvarial hyperostosis syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Hereditary disease\Hereditary metabolic 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\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anemia\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\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 anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital anemia\Congenital dyserythropoietic anemia\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anemia\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia\Congenital dyserythropoietic anemia\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anemia due to decreased red cell production\Congenital dyserythropoietic anemia\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anemia\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anemia\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pancreas\Pancreatic insufficiency\Exocrine pancreatic insufficiency\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of pancreas\Pancreatic insufficiency\Exocrine pancreatic insufficiency\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anemia\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\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 anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\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\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of pancreas\Pancreatic insufficiency\Exocrine pancreatic insufficiency\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Metabolic disease\Hereditary metabolic 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\Metabolic disease\Mitochondrial cytopathy (disorder)\Cytochrome-c oxidase deficiency\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Metabolic disease\Enzymopathy\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Metabolic disease\Metabolic bone disease\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Developmental 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\Developmental disorder\Developmental hereditary disorder\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\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 anemia, calvarial hyperostosis syndrome (disorder)
\Disease\Developmental disorder\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

5402854016 A rare syndromic mitochondrial disease characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402855015 A rare syndromic mitochondrial disease characterised by exocrine pancreatic insufficiency, dyserythropoietic anaemia, and calvarial hyperostosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Due to	Decreased erythrocyte production	true	Inferred relationship	Some	5
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Is a	Exocrine pancreatic insufficiency	true	Inferred relationship	Some
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Is a	Metabolic bone disease	true	Inferred relationship	Some
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Is a	Congenital dyserythropoietic anemia	true	Inferred relationship	Some
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Is a	Cytochrome-c oxidase deficiency	true	Inferred relationship	Some
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Is a	Dysostosis of bone of skull	true	Inferred relationship	Some
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Finding site	Erythrocyte	true	Inferred relationship	Some	6
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Has definitional manifestation	Erythropenia	false	Inferred relationship	Some
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	6
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Finding site	Structure of vault of skull (body structure)	false	Inferred relationship	Some	6
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	7
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Finding site	Structure of exocrine pancreas	false	Inferred relationship	Some	7
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Interprets	Red blood cell count	true	Inferred relationship	Some	4
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	3
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Finding site	Structure of exocrine pancreas	true	Inferred relationship	Some	1
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Finding site	Structure of vault of skull (body structure)	true	Inferred relationship	Some	2
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Finding site	Bone structure of cranium	true	Inferred relationship	Some	7
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	7
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	7
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Is a	Disorder of digestive system specific to fetus OR newborn	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

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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
5402854016	A rare syndromic mitochondrial disease characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402855015	A rare syndromic mitochondrial disease characterised by exocrine pancreatic insufficiency, dyserythropoietic anaemia, and calvarial hyperostosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core