41387000: Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphofructokinase deficiency
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Anaemia due to metabolic disorder\Anemia due to enzymopathy (disorder)\Anemia due to enzyme deficiency\HNSHA due to phosphofructokinase deficiency
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to phosphofructokinase deficiency
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphofructokinase deficiency
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to phosphofructokinase deficiency
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphofructokinase deficiency
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphofructokinase deficiency
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency\HNSHA due to phosphofructokinase deficiency
• \Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to phosphofructokinase deficiency
• \Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphofructokinase deficiency
• \Procedure related finding\Evaluation finding\...
• \Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphofructokinase deficiency
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to phosphofructokinase deficiency
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphofructokinase deficiency
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to phosphofructokinase deficiency
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphofructokinase deficiency
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphofructokinase deficiency
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to phosphofructokinase deficiency
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphofructokinase deficiency
• \Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphofructokinase deficiency
• \Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to phosphofructokinase deficiency
• \Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphofructokinase deficiency
• \Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphofructokinase deficiency
• \Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphofructokinase deficiency
• \Functional finding\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\...
• \Anemia due to enzyme deficiency\HNSHA due to phosphofructokinase deficiency
• \Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphofructokinase deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphofructokinase deficiency
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphofructokinase deficiency
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Anaemia due to metabolic disorder\Anemia due to enzymopathy (disorder)\Anemia due to enzyme deficiency\HNSHA due to phosphofructokinase deficiency
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to phosphofructokinase deficiency
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphofructokinase deficiency
• \Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to phosphofructokinase deficiency
• \Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphofructokinase deficiency
• \Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphofructokinase deficiency
• \Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency\HNSHA due to phosphofructokinase deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphofructokinase deficiency
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphofructokinase deficiency
• \Disease\Disorder of body system\Red blood cell disorder\Erythrocyte enzyme deficiency\HNSHA due to phosphofructokinase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
69035018	HNSHA due to phosphofructokinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2620733011	Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to phosphofructokinase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2620734017	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to phosphofructokinase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2914229011	Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2915046010	Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3780600018	Hereditary nonspherocytic haemolytic anaemia due to phosphofructokinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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