782911008: Hereditary cryohydrocytosis with reduced stomatin (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\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Hereditary cryohydrocytosis with reduced stomatin
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Anaemia\Anaemia due to intrinsic red cell abnormality\Stomatocytosis\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Red blood cell disorder\Hereditary red blood cell disorder\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Red blood cell disorder\Erythrocyte enzyme deficiency\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Hereditary cryohydrocytosis with reduced stomatin
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Hereditary cryohydrocytosis with reduced stomatin
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Hereditary cryohydrocytosis with reduced stomatin
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary cryohydrocytosis with reduced stomatin
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Disease\Blood disease\Anaemia\Anaemia due to intrinsic red cell abnormality\Stomatocytosis\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Disease\Blood disease\Red blood cell disorder\Erythrocyte enzyme deficiency\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Disease\Disorder of body system\Red blood cell disorder\Erythrocyte enzyme deficiency\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Hereditary cryohydrocytosis with reduced stomatin
• \Disease\Developmental disorder\Developmental hereditary disorder\Hereditary cryohydrocytosis with reduced stomatin

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3756658016	Hereditary cryohydrocytosis with reduced stomatin	en	Synonym	Active	Case insensitive	SNOMED CT core
3756659012	Hereditary cryohydrocytosis with reduced stomatin (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3756660019	sdCHC - stomatin-deficient cryohydrocytosis	en	Synonym	Active	Case sensitive	SNOMED CT core
3756661015	Hereditary cryohydrocytosis type 2	en	Synonym	Active	Case insensitive	SNOMED CT core
3756662010	CHC (hereditary cryohydrocytosis) type 2	en	Synonym	Active	Case sensitive	SNOMED CT core
3756663017	Stomatin-deficient cryohydrocytosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3756664011	A rare hemolytic anemia characterized by a combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature. There is evidence the disease is caused by heterozygous mutation in the SLC2A1 gene on chromosome 1p34.	en	Definition	Active	Case sensitive	SNOMED CT core
3756665012	A rare haemolytic anaemia characterised by a combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders and haemolytic anaemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalaemia, haemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature. There is evidence the disease is caused by heterozygous mutation in the SLC2A1 gene on chromosome 1p34.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start