78908001: Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity (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\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\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 enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\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\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Haemolytic anaemia\Anaemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\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\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Haemolytic anaemia\Anaemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\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\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Haemolytic anaemia\Anaemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\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\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity

\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\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Anaemia due to metabolic disorder\Anaemia due to enzymopathy\Anaemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Haemolytic anaemia\Anaemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\Finding of blood, lymphatics and immune system\Blood disease\Haemolytic disorder\Haemolytic anaemia\Anaemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\Finding of blood, lymphatics and immune system\Blood disease\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\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\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\Finding of blood, lymphatics and immune system\Blood disease\Red blood cell disorder\Erythrocyte enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Haemolysis\Haemolytic disorder\Haemolytic anaemia\Anaemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Haemolysis\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity

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

\Anaemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity

\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity

\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\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\Disease\Blood disease\Anaemia\Anaemia due to metabolic disorder\Anaemia due to enzymopathy\Anaemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\Disease\Blood disease\Anaemia\Haemolytic anaemia\Anaemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\Disease\Blood disease\Anaemia\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\Disease\Blood disease\Haemolytic disorder\Haemolytic anaemia\Anaemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\Disease\Blood disease\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\Disease\Blood disease\Red blood cell disorder\Erythrocyte enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\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\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity
\Disease\Disorder of body system\Red blood cell disorder\Erythrocyte enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity

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

Descriptions:

Id Description Lang Type Status Case? Module

130927018 HNSHA due to decreased adenosine deaminase activity en Synonym Active Case sensitive SNOMED CT core

2621189016 Hereditary nonspherocytic hemolytic anemia (HNSHA) due to decreased adenosine deaminase activity en Synonym Active Initial character case insensitive SNOMED CT core

2621190013 Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to decreased adenosine deaminase activity en Synonym Active Initial character case insensitive SNOMED CT core

2915010018 Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity en Synonym Active Case insensitive SNOMED CT core

2915136010 Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3780595010 Hereditary nonspherocytic haemolytic anaemia due to decreased adenosine deaminase activity en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity	Has interpretation	Present	true	Inferred relationship	Some	3
Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity	Interprets	Haemolysis	true	Inferred relationship	Some	3
Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity	Is a	Hereditary nonspherocytic haemolytic anaemia	true	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity	Associated etiologic finding	Enzymopathy	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity	Has definitional manifestation	Erythropenia	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity	Due to	Enzymopathy	true	Inferred relationship	Some	5
Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity	Has definitional manifestation	Haemolysis	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity	Finding site	Body system structure	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity	Is a	Anaemia due to enzyme deficiency	true	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity	Is a	Erythrocyte enzyme deficiency	true	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity	Interprets	Red blood cell count	true	Inferred relationship	Some	1
Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity	Finding site	Erythrocyte	true	Inferred relationship	Some	4
Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity	Interprets	Erythrocyte destruction	false	Inferred relationship	Some

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
130927018	HNSHA due to decreased adenosine deaminase activity	en	Synonym	Active	Case sensitive	SNOMED CT core
2621189016	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to decreased adenosine deaminase activity	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2621190013	Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to decreased adenosine deaminase activity	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2915010018	Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity	en	Synonym	Active	Case insensitive	SNOMED CT core
2915136010	Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3780595010	Hereditary nonspherocytic haemolytic anaemia due to decreased adenosine deaminase activity	en	Synonym	Active	Case insensitive	SNOMED CT core