25251008: Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase 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 nonspherocytic haemolytic anaemia\HNSHA due to gamma glutamyl cysteine synthetase 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 enzyme deficiency\HNSHA due to gamma glutamyl cysteine synthetase 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 nonspherocytic haemolytic anaemia\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Haemolytic anaemia\Anaemia due to enzyme deficiency\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\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\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\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\HNSHA due to gamma glutamyl cysteine synthetase 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 nonspherocytic haemolytic anaemia\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to gamma glutamyl cysteine synthetase 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 enzyme deficiency\HNSHA due to gamma glutamyl cysteine synthetase 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 nonspherocytic haemolytic anaemia\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to gamma glutamyl cysteine synthetase 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 nonspherocytic haemolytic anaemia\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Anaemia due to metabolic disorder\Anaemia due to enzymopathy\Anaemia due to enzyme deficiency\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Haemolytic anaemia\Anaemia due to enzyme deficiency\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Haemolytic disorder\Haemolytic anaemia\Anaemia due to enzyme deficiency\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\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\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Red blood cell disorder\Erythrocyte enzyme deficiency\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Haemolysis\Haemolytic disorder\Haemolytic anaemia\Anaemia due to enzyme deficiency\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Haemolysis\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to gamma glutamyl cysteine synthetase deficiency

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

\Anaemia due to enzyme deficiency\HNSHA due to gamma glutamyl cysteine synthetase deficiency

\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to gamma glutamyl cysteine synthetase 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 nonspherocytic haemolytic anaemia\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\Disease\Blood disease\Anaemia\Anaemia due to metabolic disorder\Anaemia due to enzymopathy\Anaemia due to enzyme deficiency\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\Disease\Blood disease\Anaemia\Haemolytic anaemia\Anaemia due to enzyme deficiency\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\Disease\Blood disease\Anaemia\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\Disease\Blood disease\Haemolytic disorder\Haemolytic anaemia\Anaemia due to enzyme deficiency\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\Disease\Blood disease\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\Disease\Blood disease\Red blood cell disorder\Erythrocyte enzyme deficiency\HNSHA due to gamma glutamyl cysteine synthetase 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 nonspherocytic haemolytic anaemia\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to gamma glutamyl cysteine synthetase deficiency
\Disease\Disorder of body system\Red blood cell disorder\Erythrocyte enzyme deficiency\HNSHA due to gamma glutamyl cysteine synthetase deficiency

Status: current, Defined. Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2619922011 Hereditary nonspherocytic hemolytic anemia (HNSHA) due to gamma glutamyl cysteine synthetase deficiency en Synonym Active Initial character case insensitive SNOMED CT core

2619923018 Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to gamma glutamyl cysteine synthetase deficiency en Synonym Active Initial character case insensitive SNOMED CT core

2913257010 Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency en Synonym Active Case insensitive SNOMED CT core

2914100017 Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3780594014 Hereditary nonspherocytic haemolytic anaemia due to gamma glutamyl cysteine synthetase deficiency en Synonym Active Case insensitive SNOMED CT core

42330011 HNSHA due to gamma glutamyl cysteine synthetase deficiency en Synonym Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Has interpretation	Present	true	Inferred relationship	Some	3
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Interprets	Haemolysis	true	Inferred relationship	Some	3
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Is a	Hereditary nonspherocytic haemolytic anaemia	true	Inferred relationship	Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Associated etiologic finding	Enzymopathy	false	Inferred relationship	Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Is a	Erythrocyte enzyme deficiency	true	Inferred relationship	Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Is a	Hereditary disorder of haematologic system	false	Inferred relationship	Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Is a	Anaemia due to enzyme deficiency	true	Inferred relationship	Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Is a	Glutamate-cysteine ligase deficiency	false	Inferred relationship	Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Is a	Congenital anomaly of the haematopoietic system	false	Inferred relationship	Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Associated etiologic finding	Glutamate-cysteine ligase deficiency	false	Inferred relationship	Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Has definitional manifestation	Erythropenia	false	Inferred relationship	Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Due to	Glutamate-cysteine ligase deficiency	true	Inferred relationship	Some	5
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Has definitional manifestation	Haemolysis	false	Inferred relationship	Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Has interpretation	Below reference range	true	Inferred relationship	Some	1
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Interprets	Red blood cell count	true	Inferred relationship	Some	1
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Has interpretation	Below reference range	true	Inferred relationship	Some	2
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Finding site	Erythrocyte	true	Inferred relationship	Some	4
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency	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
2619922011	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to gamma glutamyl cysteine synthetase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2619923018	Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to gamma glutamyl cysteine synthetase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2913257010	Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
2914100017	Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3780594014	Hereditary nonspherocytic haemolytic anaemia due to gamma glutamyl cysteine synthetase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
42330011	HNSHA due to gamma glutamyl cysteine synthetase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core