773489008: Hereditary cryohydrocytosis with normal stomatin (disorder)

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

\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)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Anaemia due to intrinsic red cell abnormality\Anemia due to membrane defect\Hereditary cryohydrocytosis with normal stomatin (disorder)
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Anaemia due to intrinsic red cell abnormality\Stomatocytosis\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Anemia due to membrane defect\Hereditary cryohydrocytosis with normal stomatin (disorder)
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Anemia due to membrane defect\Hereditary cryohydrocytosis with normal stomatin (disorder)
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\Anemia due to membrane defect\Hereditary cryohydrocytosis with normal stomatin (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)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (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\Hemolytic anemia\Anemia due to membrane defect\Hereditary cryohydrocytosis with normal stomatin (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\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Anemia due to membrane defect\Hereditary cryohydrocytosis with normal stomatin (disorder)
\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 normal stomatin (disorder)
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Anemia due to membrane defect\Hereditary cryohydrocytosis with normal stomatin (disorder)
\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 normal stomatin (disorder)
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Hemolytic anemia\Anemia due to membrane defect\Hereditary cryohydrocytosis with normal stomatin (disorder)
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)

\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)

\Functional finding\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\Anemia due to membrane defect\Hereditary cryohydrocytosis with normal stomatin (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anaemia due to intrinsic red cell abnormality\Anemia due to membrane defect\Hereditary cryohydrocytosis with normal stomatin (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anaemia due to intrinsic red cell abnormality\Stomatocytosis\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Anemia due to membrane defect\Hereditary cryohydrocytosis with normal stomatin (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Anemia due to membrane defect\Hereditary cryohydrocytosis with normal stomatin (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)
\Disease\Disorder of body system\Red blood cell disorder\Erythrocyte enzyme deficiency\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3723693015 Hereditary cryohydrocytosis with normal stomatin (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723694014 Hereditary cryohydrocytosis with normal stomatin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723695010 A rare hereditary haemolytic anaemia due to a red cell membrane anomaly characterised by fatigue, mild anaemia and pseudohyperkalaemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. There is evidence this disease is caused by heterozygous mutation in the SLC4A1 gene on chromosome 17q21. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
3723696011 A rare hereditary hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. There is evidence this disease is caused by heterozygous mutation in the SLC4A1 gene on chromosome 17q21. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5405266014 Hereditary cryohydrocytosis with normal stomatin is a rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5405267017 Hereditary cryohydrocytosis with normal stomatin is a rare, hereditary, haemolytic anaemia due to a red cell membrane anomaly characterised by fatigue, mild anaemia and pseudohyperkalaemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. 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
Hereditary cryohydrocytosis with normal stomatin (disorder)	Associated morphology	Stomatocyte	true	Inferred relationship	Some	3
Hereditary cryohydrocytosis with normal stomatin (disorder)	Interprets	Red blood cell count	true	Inferred relationship	Some	1
Hereditary cryohydrocytosis with normal stomatin (disorder)	Is a	Hereditary stomatocytosis	true	Inferred relationship	Some
Hereditary cryohydrocytosis with normal stomatin (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Hereditary cryohydrocytosis with normal stomatin (disorder)	Finding site	Erythrocyte	true	Inferred relationship	Some	4
Hereditary cryohydrocytosis with normal stomatin (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Hereditary cryohydrocytosis with normal stomatin (disorder)	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
Hereditary cryohydrocytosis with normal stomatin (disorder)	Is a	Anemia due to membrane defect	true	Inferred relationship	Some
Hereditary cryohydrocytosis with normal stomatin (disorder)	Interprets	Hemolysis (observable entity)	true	Inferred relationship	Some	5
Hereditary cryohydrocytosis with normal stomatin (disorder)	Has interpretation	Present	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3723693015	Hereditary cryohydrocytosis with normal stomatin (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3723694014	Hereditary cryohydrocytosis with normal stomatin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3723695010	A rare hereditary haemolytic anaemia due to a red cell membrane anomaly characterised by fatigue, mild anaemia and pseudohyperkalaemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. There is evidence this disease is caused by heterozygous mutation in the SLC4A1 gene on chromosome 17q21.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3723696011	A rare hereditary hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. There is evidence this disease is caused by heterozygous mutation in the SLC4A1 gene on chromosome 17q21.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405266014	Hereditary cryohydrocytosis with normal stomatin is a rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405267017	Hereditary cryohydrocytosis with normal stomatin is a rare, hereditary, haemolytic anaemia due to a red cell membrane anomaly characterised by fatigue, mild anaemia and pseudohyperkalaemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core