389214003: Ghosal hematodiaphyseal dysplasia (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range\Dysplasia with increased bone density\Diaphyseal dysplasia with anaemia
• \Evaluation finding\Measurement finding\Finding of substance level\Protein level - finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Diaphyseal dysplasia with anaemia
• \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\Diaphyseal dysplasia with anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Congenital anaemia\Diaphyseal dysplasia with anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Congenital anaemia\Diaphyseal dysplasia with anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Congenital anaemia\Diaphyseal dysplasia with anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Diaphyseal dysplasia with anaemia
• \Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Diaphyseal dysplasia with anaemia
• \Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Diaphyseal dysplasia with anaemia
• \Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Diaphyseal dysplasia with anaemia
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Diaphyseal dysplasia with anaemia
• \Anaemia\Congenital anaemia\Diaphyseal dysplasia with anaemia
• \General finding of observation of patient\Procedure related finding\Bone density finding\Bone density above reference range\Dysplasia with increased bone density\Diaphyseal dysplasia with anaemia
• \Musculoskeletal finding\Bone finding\Bone density finding\Bone density above reference range\Dysplasia with increased bone density\Diaphyseal dysplasia with anaemia
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Diaphyseal dysplasia with anaemia
• \Musculoskeletal finding\Bone finding\Disorder of bone\Dysplasia with increased bone density\Diaphyseal dysplasia with anaemia
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Diaphyseal dysplasia with anaemia
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Diaphyseal dysplasia with anaemia
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Diaphyseal dysplasia with anaemia
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Diaphyseal dysplasia with anaemia
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Diaphyseal dysplasia with anaemia
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diaphyseal dysplasia with anaemia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Diaphyseal dysplasia with anaemia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Diaphyseal dysplasia with anaemia
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Diaphyseal dysplasia with anaemia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Diaphyseal dysplasia with anaemia
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Diaphyseal dysplasia with anaemia
• \Disease\Blood disease\Anaemia\Congenital anaemia\Diaphyseal dysplasia with anaemia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Diaphyseal dysplasia with anaemia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Diaphyseal dysplasia with anaemia
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Diaphyseal dysplasia with anaemia
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Diaphyseal dysplasia with anaemia
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Diaphyseal dysplasia with anaemia
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Diaphyseal dysplasia with anaemia
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Diaphyseal dysplasia with anaemia
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diaphyseal dysplasia with anaemia
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Diaphyseal dysplasia with anaemia
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diaphyseal dysplasia with anaemia
• \Disease\Congenital disease\Congenital anaemia\Diaphyseal dysplasia with anaemia
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Diaphyseal dysplasia with anaemia
• \Disease\Developmental disorder\Developmental hereditary disorder\Diaphyseal dysplasia with anaemia
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Diaphyseal dysplasia with anaemia
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diaphyseal dysplasia with anaemia

Status: current, Primitive. Date: 31-Jan 2003. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1476232017	Diaphyseal dysplasia with anaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
1477193011	Diaphyseal dysplasia with anemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3034187018	Ghosal hematodiaphyseal dysplasia	en	Synonym	Active	Case sensitive	SNOMED CT core
3034336011	Ghosal haematodiaphyseal dysplasia	en	Synonym	Active	Case sensitive	SNOMED CT core
4592856019	Diaphyseal dysplasia anaemia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4592857011	Diaphyseal dysplasia anemia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4592858018	Ghosal syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4592861017	Ghosal hematodiaphyseal dysplasia (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
4592859014	A rare disorder characterised by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anaemia. The exact prevalence is unknown. Associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). Transmitted as an autosomal recessive trait.	en	Definition	Active	Case sensitive	SNOMED CT core
4592860016	A rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia. The exact prevalence is unknown. Associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). Transmitted as an autosomal recessive trait.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Unit of use quantity reference set

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