782911008: Hereditary cryohydrocytosis with reduced stomatin (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Hereditary cryohydrocytosis with reduced stomatin
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\...
• \Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Anaemia\Anaemia due to intrinsic red cell abnormality\Stomatocytosis (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Red blood cell disorder\Erythrocyte enzyme deficiency\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Procedure related finding\Evaluation finding\...
• \Measurement finding\Finding of substance level (finding)\Finding of protein level (finding)\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range\Red blood cell count below reference range\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\Red blood cell count below reference range\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Hereditary cryohydrocytosis with reduced stomatin
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Hereditary cryohydrocytosis with reduced stomatin
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Hereditary cryohydrocytosis with reduced stomatin
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (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\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Disease\Disorder of cellular component of blood\Anaemia\Anaemia due to intrinsic red cell abnormality\Stomatocytosis (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Disease\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Disease\Disorder of cellular component of blood\Red blood cell disorder\Erythrocyte enzyme deficiency\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with reduced stomatin
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (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 (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Hereditary cryohydrocytosis with reduced stomatin
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Hereditary cryohydrocytosis with reduced stomatin

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3756658016	Hereditary cryohydrocytosis with reduced stomatin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756659012	Hereditary cryohydrocytosis with reduced stomatin (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756660019	sdCHC - stomatin-deficient cryohydrocytosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756661015	Hereditary cryohydrocytosis type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756662010	CHC (hereditary cryohydrocytosis) type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756663017	Stomatin-deficient cryohydrocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756658016	Hereditary cryohydrocytosis with reduced stomatin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756659012	Hereditary cryohydrocytosis with reduced stomatin (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756660019	sdCHC - stomatin-deficient cryohydrocytosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756661015	Hereditary cryohydrocytosis type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756662010	CHC (hereditary cryohydrocytosis) type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756663017	Stomatin-deficient cryohydrocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3444821001000111	Kryohydrozytose mit reduziertem Stomatin, hereditäre Form	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6286781000241115	cryohydrocytose héréditaire avec diminution de la stomatine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6286781000241115	cryohydrocytose héréditaire avec diminution de la stomatine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3444821001000111	Kryohydrozytose mit reduziertem Stomatin, hereditäre Form	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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