363041004: Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism (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\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Evaluation finding\Measurement finding\Finding of substance level\Protein level - finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\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\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\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\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\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 nonspherocytic haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Congenital anaemia\Congenital haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Haemolytic anaemia\Congenital haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Congenital anaemia\Congenital haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Congenital anaemia\Congenital haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Haemolytic anaemia\Congenital haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Congenital haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Haemolytic anaemia\Congenital haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\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 nonspherocytic haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism

\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 nonspherocytic haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Congenital anaemia\Congenital haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Haemolytic anaemia\Congenital haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Finding of blood, lymphatics and immune system\Blood disease\Haemolytic disorder\Haemolytic anaemia\Congenital haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Finding of blood, lymphatics and immune system\Blood disease\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Finding of blood, lymphatics and immune system\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Finding of blood, lymphatics and immune system\Blood disease\Red blood cell disorder\Congenital haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Haemolysis\Haemolytic disorder\Haemolytic anaemia\Congenital haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Haemolysis\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism

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

\Congenital haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism

\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\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 nonspherocytic haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Disease\Blood disease\Anaemia\Congenital anaemia\Congenital haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Disease\Blood disease\Anaemia\Haemolytic anaemia\Congenital haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Disease\Blood disease\Anaemia\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Disease\Blood disease\Haemolytic disorder\Haemolytic anaemia\Congenital haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Disease\Blood disease\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Disease\Blood disease\Red blood cell disorder\Congenital haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\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 nonspherocytic haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Disease\Disorder of body system\Red blood cell disorder\Congenital haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Disease\Congenital disease\Inborn error of metabolism\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism
\Disease\Congenital disease\Congenital anaemia\Congenital haemolytic anaemia\Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism

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

Descriptions:

Id Description Lang Type Status Case? Module

1206544013 Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism en Synonym Active Case insensitive SNOMED CT core

482176016 Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism en Synonym Active Case insensitive SNOMED CT core

754820012 Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism	Has interpretation	Present	true	Inferred relationship	Some	4
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism	Interprets	Haemolysis	true	Inferred relationship	Some	4
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism	Is a	Hereditary nonspherocytic haemolytic anaemia	true	Inferred relationship	Some
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism	Is a	Hereditary disorder of haematologic system	false	Inferred relationship	Some
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism	Is a	Congenital anomaly of the haematopoietic system	false	Inferred relationship	Some
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism	Finding site	Erythrocyte	false	Inferred relationship	Some
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism	Has definitional manifestation	Erythropenia	false	Inferred relationship	Some
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism	Is a	Congenital anaemia	false	Inferred relationship	Some
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism	Finding site	Body system structure	false	Inferred relationship	Some
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism	Has definitional manifestation	Haemolysis	false	Inferred relationship	Some
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism	Interprets	Red blood cell count	true	Inferred relationship	Some	1
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism	Interprets	Erythrocyte destruction	false	Inferred relationship	Some
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism	Occurrence	Congenital	false	Inferred relationship	Some
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism	Finding site	Body system structure	false	Inferred relationship	Some
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism	Is a	Congenital haemolytic anaemia	true	Inferred relationship	Some
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism	Finding site	Erythrocyte	true	Inferred relationship	Some	3
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism	Occurrence	Congenital	true	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
1206544013	Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism	en	Synonym	Active	Case insensitive	SNOMED CT core
482176016	Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism	en	Synonym	Active	Case insensitive	SNOMED CT core
754820012	Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core