77413008: Severe hereditary spherocytosis due to spectrin deficiency (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 haemolytic anaemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\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\Anaemia due to membrane defect\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\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 spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Haemolytic anaemia\Anaemia due to membrane defect\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Haemolytic anaemia\Anaemia due to membrane defect\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Haemolytic anaemia\Anaemia due to membrane defect\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\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 spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency

\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 spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Anaemia due to intrinsic red cell abnormality\Anaemia due to membrane defect\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Haemolytic anaemia\Anaemia due to membrane defect\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Haemolytic disorder\Haemolytic anaemia\Anaemia due to membrane defect\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Haemolysis\Haemolytic disorder\Haemolytic anaemia\Anaemia due to membrane defect\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Haemolysis\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency

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

\Anaemia due to membrane defect\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency

\Hereditary haemolytic anaemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency

\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 spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Disease\Blood disease\Anaemia\Anaemia due to intrinsic red cell abnormality\Anaemia due to membrane defect\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Disease\Blood disease\Anaemia\Haemolytic anaemia\Anaemia due to membrane defect\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Disease\Blood disease\Anaemia\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Disease\Blood disease\Haemolytic disorder\Haemolytic anaemia\Anaemia due to membrane defect\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Disease\Blood disease\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Disease\Blood disease\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Disease\Disorder of body system\Disorder of haematopoietic structure\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\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 spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency
\Disease\Disorder of body system\Red blood cell disorder\Erythrocyte membrane abnormality\Hereditary spherocytosis\Hereditary spherocytosis due to spectrin deficiency\Severe hereditary spherocytosis due to spectrin deficiency

Status: current, Primitive. Date: 31-Jul 2006. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

128504012 Severe hereditary spherocytosis due to spectrin deficiency en Synonym Active Case insensitive SNOMED CT core

818241019 Severe hereditary spherocytosis due to spectrin deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Severe hereditary spherocytosis due to spectrin deficiency	Has interpretation	Present	true	Inferred relationship	Some	4
Severe hereditary spherocytosis due to spectrin deficiency	Interprets	Haemolysis	true	Inferred relationship	Some	4
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Spherocyte	false	Inferred relationship	Some	1
Severe hereditary spherocytosis due to spectrin deficiency	Severity	Severe	false	Inferred relationship	Some
Severe hereditary spherocytosis due to spectrin deficiency	Finding site	Entire haematological system	false	Inferred relationship	Some	1
Severe hereditary spherocytosis due to spectrin deficiency	Finding site	Haematopoietic system structure	false	Inferred relationship	Some	1
Severe hereditary spherocytosis due to spectrin deficiency	Has definitional manifestation	Erythropenia	false	Inferred relationship	Some
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Spherocyte	false	Inferred relationship	Some	1
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Spherocyte	false	Inferred relationship	Some	2
Severe hereditary spherocytosis due to spectrin deficiency	Has definitional manifestation	Haemolysis	false	Inferred relationship	Some
Severe hereditary spherocytosis due to spectrin deficiency	Is a	Hereditary spherocytosis due to spectrin deficiency	true	Inferred relationship	Some
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Spherocyte	false	Inferred relationship	Some	1
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Spherocyte	false	Inferred relationship	Some	2
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Spherocyte	false	Inferred relationship	Some	1
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Spherocyte	false	Inferred relationship	Some	2
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Spherocyte	false	Inferred relationship	Some	2
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Spherocyte	false	Inferred relationship	Some	1
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Spherocyte	false	Inferred relationship	Some	1
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Spherocyte	false	Inferred relationship	Some	2
Severe hereditary spherocytosis due to spectrin deficiency	Finding site	Haematopoietic system structure	true	Inferred relationship	Some	1
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Spherocyte	true	Inferred relationship	Some	1
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Spherocytosis	false	Inferred relationship	Some	1
Severe hereditary spherocytosis due to spectrin deficiency	Finding site	Entire haematological system	false	Inferred relationship	Some	1
Severe hereditary spherocytosis due to spectrin deficiency	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Severe hereditary spherocytosis due to spectrin deficiency	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Severe hereditary spherocytosis due to spectrin deficiency	Interprets	Red blood cell count	true	Inferred relationship	Some	2
Severe hereditary spherocytosis due to spectrin deficiency	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	3
Severe hereditary spherocytosis due to spectrin deficiency	Interprets	Nutritional deficiency	false	Inferred relationship	Some
Severe hereditary spherocytosis due to spectrin deficiency	Associated morphology	Defect	false	Inferred relationship	Some
Severe hereditary spherocytosis due to spectrin deficiency	Finding site	Erythrocyte	true	Inferred relationship	Some	5
Severe hereditary spherocytosis due to spectrin deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Severe hereditary spherocytosis due to spectrin deficiency	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Severe hereditary spherocytosis due to spectrin deficiency	Interprets	Erythrocyte destruction	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Severe hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin	Is a	False	Severe hereditary spherocytosis due to spectrin deficiency	Inferred relationship	Some

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
128504012	Severe hereditary spherocytosis due to spectrin deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
818241019	Severe hereditary spherocytosis due to spectrin deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core