73073009: Hereditary elliptocytosis due to beta spectrin defect in self-association (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\Congenital anaemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Evaluation finding\Measurement finding\Finding of substance level\Protein level - finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\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\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Haemolytic anaemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Congenital anaemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Haemolytic anaemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Congenital anaemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Congenital anaemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Haemolytic anaemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Haemolytic anaemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association

\Finding of blood, lymphatics and immune system\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Anaemia due to intrinsic red cell abnormality\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Congenital anaemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Haemolytic anaemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Finding of blood, lymphatics and immune system\Blood disease\Haemolytic disorder\Haemolytic anaemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Finding of blood, lymphatics and immune system\Blood disease\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Finding of blood, lymphatics and immune system\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Finding of blood, lymphatics and immune system\Blood disease\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Finding of blood, lymphatics and immune system\Blood disease\Red blood cell disorder\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Haemolysis\Haemolytic disorder\Haemolytic anaemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Haemolysis\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association

\Functional finding\Red blood cell destruction finding\Haemolysis\Haemolytic disorder\Haemolytic anaemia\...

\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association

\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Disease\Blood disease\Anaemia\Anaemia due to intrinsic red cell abnormality\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Disease\Blood disease\Anaemia\Congenital anaemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Disease\Blood disease\Anaemia\Haemolytic anaemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Disease\Blood disease\Anaemia\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Disease\Blood disease\Haemolytic disorder\Haemolytic anaemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Disease\Blood disease\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Disease\Blood disease\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Disease\Blood disease\Red blood cell disorder\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Disease\Disorder of body system\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Disease\Disorder of body system\Red blood cell disorder\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Disease\Congenital disease\Congenital anomaly\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Disease\Congenital disease\Congenital anaemia\Congenital haemolytic anaemia\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association
\Disease\Developmental disorder\Congenital anomaly\Hereditary elliptocytosis\Hereditary elliptocytosis due to beta spectrin defect in self-association

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

121372015 Hereditary elliptocytosis due to beta spectrin defect in self-association en Synonym Active Case insensitive SNOMED CT core

813421012 Hereditary elliptocytosis due to beta spectrin defect in self-association (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary elliptocytosis due to beta spectrin defect in self-association	Has interpretation	Present	true	Inferred relationship	Some	3
Hereditary elliptocytosis due to beta spectrin defect in self-association	Interprets	Haemolysis	true	Inferred relationship	Some	3
Hereditary elliptocytosis due to beta spectrin defect in self-association	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Hereditary elliptocytosis due to beta spectrin defect in self-association	Finding site	Erythrocyte	true	Inferred relationship	Some	4
Hereditary elliptocytosis due to beta spectrin defect in self-association	Associated morphology	Elliptocyte	true	Inferred relationship	Some	4
Hereditary elliptocytosis due to beta spectrin defect in self-association	Occurrence	Congenital	true	Inferred relationship	Some	4
Hereditary elliptocytosis due to beta spectrin defect in self-association	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Hereditary elliptocytosis due to beta spectrin defect in self-association	Has definitional manifestation	Erythropenia	false	Inferred relationship	Some
Hereditary elliptocytosis due to beta spectrin defect in self-association	Is a	Hereditary disorder of haematologic system	false	Inferred relationship	Some
Hereditary elliptocytosis due to beta spectrin defect in self-association	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Hereditary elliptocytosis due to beta spectrin defect in self-association	Is a	Hereditary elliptocytosis	true	Inferred relationship	Some
Hereditary elliptocytosis due to beta spectrin defect in self-association	Is a	Anaemia due to intrinsic red cell abnormality	true	Inferred relationship	Some
Hereditary elliptocytosis due to beta spectrin defect in self-association	Finding site	Body system structure	false	Inferred relationship	Some
Hereditary elliptocytosis due to beta spectrin defect in self-association	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Hereditary elliptocytosis due to beta spectrin defect in self-association	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	1
Hereditary elliptocytosis due to beta spectrin defect in self-association	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Hereditary elliptocytosis due to beta spectrin defect in self-association	Interprets	Red blood cell count	true	Inferred relationship	Some	2
Hereditary elliptocytosis due to beta spectrin defect in self-association	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Hereditary elliptocytosis due to beta spectrin defect in self-association	Interprets	Spectrin	false	Inferred relationship	Some
Hereditary elliptocytosis due to beta spectrin defect in self-association	Finding site	Erythrocyte	false	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
121372015	Hereditary elliptocytosis due to beta spectrin defect in self-association	en	Synonym	Active	Case insensitive	SNOMED CT core
813421012	Hereditary elliptocytosis due to beta spectrin defect in self-association (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core