74703006: Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anaemia\Anaemia due to metabolic disorder\Anemia due to enzymopathy (disorder)\Anemia due to enzyme deficiency\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder (disorder)\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder (disorder)\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency

\Procedure related finding\Evaluation finding\...

\Measurement finding\Finding of substance level (finding)\Finding of protein level (finding)\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range\Red blood cell count below reference range\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range\Red blood cell count below reference range\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase 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 (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase 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 (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase 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 (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase 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 (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase 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 (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency
\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\Red blood cell count below reference range\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\Red blood cell count below reference range\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency

\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency
\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency

\Functional finding\Red blood cell destruction finding\Hemolysis\Hemolytic disorder (disorder)\Hemolytic anemia\...

\Anemia due to enzyme deficiency\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency

\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency
\Disease\Disorder of cellular component of blood\Anaemia\Anaemia due to metabolic disorder\Anemia due to enzymopathy (disorder)\Anemia due to enzyme deficiency\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency
\Disease\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency
\Disease\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency
\Disease\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency
\Disease\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency	Is a	Hereditary disorder of haematologic sysem	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency	Is a	Congenital anomaly of the haematopoietic system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency	Is a	Inborn error of metabolism	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency	Is a	Anemia due to enzyme deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency	Is a	Hereditary nonspherocytic haemolytic anaemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency	Is a	Deficiency of pyruvate kinase	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency	Associated etiologic finding	Enzymopathy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency	Associated etiologic finding	Deficiency of pyruvate kinase	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency	Has definitional manifestation	érythropénie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency	Due to	Deficiency of pyruvate kinase	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency	Has definitional manifestation	Hemolysis	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency	Interprets	Erythrocyte destruction	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency	Has interpretation	Present (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency	Interprets	Haemolysis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
124062010	Pyruvate kinase deficiency anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
200479013	Pyruvate kinase deficiency anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2913298015	Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2913628019	Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3780591018	Hereditary nonspherocytic haemolytic anaemia due to pyruvate kinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4673191012	PK (pyruvate kinase) deficiency hemolytic anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4673192017	PK (pyruvate kinase) deficiency haemolytic anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4673715012	HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4673717016	HNSHA (hereditary nonspherocytic haemolytic anaemia) due to pyruvate kinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
124061015	HNSHA due to pyruvate kinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
124062010	Pyruvate kinase deficiency anemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
124062010	Pyruvate kinase deficiency anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
124063017	PK deficiency anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
200479013	Pyruvate kinase deficiency anaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
200479013	Pyruvate kinase deficiency anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
200480011	PK deficiency anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
815232011	HNSHA due to pyruvate kinase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
815232011	HNSHA due to pyruvate kinase deficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2612591017	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to pyruvate kinase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2621111011	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to pyruvate kinase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2621112016	Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to pyruvate kinase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2913298015	Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2913298015	Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2913628019	Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2913628019	Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3780591018	Hereditary nonspherocytic haemolytic anaemia due to pyruvate kinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4673191012	PK (pyruvate kinase) deficiency hemolytic anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4673192017	PK (pyruvate kinase) deficiency haemolytic anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4673715012	HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4673717016	HNSHA (hereditary nonspherocytic haemolytic anaemia) due to pyruvate kinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3447111001000116	Hämolytische Anämie durch Mangel der erythrozytären Pyruvatkinase	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4634231000241115	anémie hémolytique non sphérocytaire héréditaire par carence en pyruvate kinase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4634231000241115	anémie hémolytique non sphérocytaire héréditaire par carence en pyruvate kinase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3447111001000116	Hämolytische Anämie durch Mangel der erythrozytären Pyruvatkinase	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module