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

\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\Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)
\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\Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)
\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\Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)
\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\Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)
\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\Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)
\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\Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)
\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\Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)
\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\Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)
\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)
\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\Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)
\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\Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)

\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\Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)
\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)

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

\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)

\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)

\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\Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)
\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\Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)
\Disease\Disorder of cellular component of blood\Anaemia\Anaemia due to metabolic disorder\Anemia due to enzymopathy (disorder)\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)
\Disease\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)
\Disease\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)
\Disease\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)
\Disease\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Erythrocyte enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)
\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\Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)
\Disease\Disorder of body system\Red blood cell disorder\Erythrocyte enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)

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

69035018 HNSHA due to phosphofructokinase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

778169018 HNSHA due to phosphofructokinase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

778169018 HNSHA due to phosphofructokinase deficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

2612341017 Hereditary nonspherocytic hemolytic anemia (HNSHA) due to phosphofructokinase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (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 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 Only initial character 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

6269991000241114 anémie hémolytique héréditaire non sphérocytaire due à un déficit en phosphofructokinase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6269991000241114 anémie hémolytique héréditaire non sphérocytaire due à un déficit en phosphofructokinase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)	Is a	Anemia due to enzyme deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)	Is a	Erythrocyte enzyme deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)	Is a	Hereditary nonspherocytic haemolytic anaemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)	Associated etiologic finding	Enzymopathy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)	Has definitional manifestation	érythropénie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)	Due to	Enzymopathy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)	Has definitional manifestation	Hemolysis	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)	Interprets	Erythrocyte destruction	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)	Has interpretation	Present (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)	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

Back to Start

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
69035018	HNSHA due to phosphofructokinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
778169018	HNSHA due to phosphofructokinase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
778169018	HNSHA due to phosphofructokinase deficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2612341017	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to phosphofructokinase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (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	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	Only initial character 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
6269991000241114	anémie hémolytique héréditaire non sphérocytaire due à un déficit en phosphofructokinase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6269991000241114	anémie hémolytique héréditaire non sphérocytaire due à un déficit en phosphofructokinase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module