301317008: Hereditary nonspherocytic hemolytic anemia (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 nonspherocytic haemolytic anaemia
\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
\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
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia
\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
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia
\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
\Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia
\Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia

\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
\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia
\Finding of blood, lymphatics and immune system\Blood disease\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia
\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
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Haemolysis\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia

\Functional finding\Red blood cell destruction finding\Haemolysis\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia

\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
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia
\Disease\Blood disease\Anaemia\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia
\Disease\Blood disease\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia
\Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia
\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
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia

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

Descriptions:

Id Description Lang Type Status Case? Module

1226960012 HNSHA en Synonym Active Case sensitive SNOMED CT core

442590010 Hereditary nonspherocytic haemolytic anaemia en Synonym Active Case insensitive SNOMED CT core

442591014 Congenital nonspherocytic hemolytic anemia en Synonym Active Case insensitive SNOMED CT core

442592019 Hereditary nonspherocytic hemolytic anemia en Synonym Active Case insensitive SNOMED CT core

442593012 Congenital nonspherocytic haemolytic anaemia en Synonym Active Case insensitive SNOMED CT core

697100013 Hereditary nonspherocytic hemolytic anemia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary nonspherocytic haemolytic anaemia	Has interpretation	Present	true	Inferred relationship	Some	3
Hereditary nonspherocytic haemolytic anaemia	Interprets	Haemolysis	true	Inferred relationship	Some	3
Hereditary nonspherocytic haemolytic anaemia	Is a	Haemolytic anaemia	false	Inferred relationship	Some
Hereditary nonspherocytic haemolytic anaemia	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Hereditary nonspherocytic haemolytic anaemia	Has definitional manifestation	Erythropenia	false	Inferred relationship	Some
Hereditary nonspherocytic haemolytic anaemia	Is a	Hereditary haemolytic anaemia	true	Inferred relationship	Some
Hereditary nonspherocytic haemolytic anaemia	Finding site	Body system structure	false	Inferred relationship	Some
Hereditary nonspherocytic haemolytic anaemia	Has definitional manifestation	Haemolysis	false	Inferred relationship	Some
Hereditary nonspherocytic haemolytic anaemia	Finding site	Erythrocyte	true	Inferred relationship	Some	4
Hereditary nonspherocytic haemolytic anaemia	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Hereditary nonspherocytic haemolytic anaemia	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Hereditary nonspherocytic haemolytic anaemia	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Hereditary nonspherocytic haemolytic anaemia	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	1
Hereditary nonspherocytic haemolytic anaemia	Interprets	Red blood cell count	true	Inferred relationship	Some	2
Hereditary nonspherocytic haemolytic anaemia	Interprets	Erythrocyte destruction	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary nonspherocytic haemolytic anaemia due to aldolase A deficiency	Is a	False	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to glutathione synthetase deficiency	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to pyrimidine-5'-nucleotidase deficiency	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to phosphofructokinase deficiency	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to hexokinase deficiency	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to triosephosphate isomerase deficiency	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to NADH diaphorase deficiency	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to glutathione reductase deficiency	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to glucose phosphate isomerase deficiency	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
Haemolytic anaemia due to erythrocyte adenosine deaminase overproduction	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to phosphoglycerate kinase deficiency	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA due to NADH-methaemoglobin reductase deficiency	Is a	False	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
HNSHA (hereditary nonspherocytic haemolytic anaemia) due to pyruvate kinase deficiency	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
Congenital nonspherocytic haemolytic anaemia due to inborn error of metabolism	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
Lethal haemolytic anaemia and genital anomaly syndrome	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
Nonspherocytic haemolytic anaemia due to deficiency of adenosinetriphosphatase	Is a	True	Hereditary nonspherocytic haemolytic anaemia	Inferred relationship	Some
Haemolytic anaemia due to adenylate kinase deficiency	Is a	True	Hereditary nonspherocytic haemolytic anaemia	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
1226960012	HNSHA	en	Synonym	Active	Case sensitive	SNOMED CT core
442590010	Hereditary nonspherocytic haemolytic anaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
442591014	Congenital nonspherocytic hemolytic anemia	en	Synonym	Active	Case insensitive	SNOMED CT core
442592019	Hereditary nonspherocytic hemolytic anemia	en	Synonym	Active	Case insensitive	SNOMED CT core
442593012	Congenital nonspherocytic haemolytic anaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
697100013	Hereditary nonspherocytic hemolytic anemia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core