14087004: hereditaire stomatocytose (aandoening)

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

\Laboratory test finding (finding)\Hematopoietic system finding\...

\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary stomatocytosis

\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary stomatocytosis

\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

\Anemia\Anaemia due to intrinsic red cell abnormality\Stomatocytosis\Hereditary stomatocytosis

\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis
\Red blood cell disorder\Erythrocyte enzyme deficiency\Hereditary stomatocytosis

\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
\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
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Hereditary stomatocytosis
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Hereditary stomatocytosis
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Hereditary stomatocytosis
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary stomatocytosis
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Hereditary stomatocytosis

\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary stomatocytosis
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary stomatocytosis

\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
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary stomatocytosis
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anaemia due to intrinsic red cell abnormality\Stomatocytosis\Hereditary stomatocytosis
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency\Hereditary stomatocytosis
\Disease\Disorder of body system\Hematological disorder (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis
\Disease\Disorder of body system\Hematological disorder (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency\Hereditary stomatocytosis
\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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary stomatocytosis	Is a	Stomatocytosis	true	Inferred relationship	Some
Hereditary stomatocytosis	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Hereditary stomatocytosis	Is a	Hereditary disorder of hematologic system	false	Inferred relationship	Some
Hereditary stomatocytosis	Is a	Erythrocyte enzyme deficiency	true	Inferred relationship	Some
Hereditary stomatocytosis	Finding site	Erythrocyte	true	Inferred relationship	Some	3
Hereditary stomatocytosis	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Hereditary stomatocytosis	Associated morphology	Stomatocyte	true	Inferred relationship	Some	4
Hereditary stomatocytosis	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Hereditary stomatocytosis	Has definitional manifestation	erytropenie (bevinding)	false	Inferred relationship	Some
Hereditary stomatocytosis	Is a	Hereditary red blood cell disorder (disorder)	true	Inferred relationship	Some
Hereditary stomatocytosis	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Hereditary stomatocytosis	Interprets	Red blood cell count	true	Inferred relationship	Some	1
Hereditary stomatocytosis	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Hereditary stomatocytosis	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
Hereditary stomatocytosis	Is a	Hemoglobin below reference range (finding)	true	Inferred relationship	Some
Hereditary stomatocytosis	Is a	Red blood cell count below reference range	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dehydrated hereditary stomatocytosis (disorder)	Is a	False	Hereditary stomatocytosis	Inferred relationship	Some
Familial pseudohyperkalemia (disorder)	Is a	False	Hereditary stomatocytosis	Inferred relationship	Some
Overhydrated hereditary stomatocytosis (disorder)	Is a	False	Hereditary stomatocytosis	Inferred relationship	Some
Southeast Asian ovalocytosis (disorder)	Is a	False	Hereditary stomatocytosis	Inferred relationship	Some
Hereditary cryohydrocytosis with normal stomatin (disorder)	Is a	True	Hereditary stomatocytosis	Inferred relationship	Some
Hereditary cryohydrocytosis with reduced stomatin	Is a	True	Hereditary stomatocytosis	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
23981010	Hereditary stomatocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
23982015	Hereditary hydrocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
739994017	Hereditary stomatocytosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1443581000146110	hereditaire stomatocytose (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1443591000146112	hereditaire stomatocytose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)