52413004: Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase 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 due to glucose phosphate isomerase 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 due to glucose phosphate isomerase deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to glucose phosphate isomerase 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 due to glucose phosphate isomerase 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 due to glucose phosphate isomerase 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 due to glucose phosphate isomerase 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 due to glucose phosphate isomerase 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 due to glucose phosphate isomerase 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 due to glucose phosphate isomerase 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 due to glucose phosphate isomerase 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 due to glucose phosphate isomerase 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 due to glucose phosphate isomerase 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 glucose phosphate isomerase 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 glucose phosphate isomerase 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 glucose phosphate isomerase 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 glucose phosphate isomerase 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 glucose phosphate isomerase 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 due to glucose phosphate isomerase 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 due to glucose phosphate isomerase 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 due to glucose phosphate isomerase 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 due to glucose phosphate isomerase deficiency
\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glucose phosphate isomerase deficiency

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

\Anemia due to enzyme deficiency\HNSHA due to glucose phosphate isomerase deficiency

\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glucose phosphate isomerase 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 due to glucose phosphate isomerase deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\HNSHA due to glucose phosphate isomerase 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 due to glucose phosphate isomerase 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 due to glucose phosphate isomerase deficiency
\Disease\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to glucose phosphate isomerase deficiency
\Disease\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glucose phosphate isomerase deficiency
\Disease\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to glucose phosphate isomerase deficiency
\Disease\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to glucose phosphate isomerase 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 due to glucose phosphate isomerase 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 due to glucose phosphate isomerase 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 glucose phosphate isomerase deficiency

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

Descriptions:

Id Description Lang Type Status Case? Module

87225015 HNSHA due to glucose phosphate isomerase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2620876016 Hereditary nonspherocytic hemolytic anemia (HNSHA) due to glucose phosphate isomerase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2620877013 Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to glucose phosphate isomerase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2914519017 Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2915251014 Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3780598012 Hereditary nonspherocytic haemolytic anaemia due to glucose phosphate isomerase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

87225015 HNSHA due to glucose phosphate isomerase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

790420015 HNSHA due to glucose phosphate isomerase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

790420015 HNSHA due to glucose phosphate isomerase deficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

2612429013 Hereditary nonspherocytic hemolytic anemia (HNSHA) due to glucose phosphate isomerase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2620876016 Hereditary nonspherocytic hemolytic anemia (HNSHA) due to glucose phosphate isomerase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2620877013 Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to glucose phosphate isomerase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2914519017 Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2914519017 Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2915251014 Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2915251014 Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3780598012 Hereditary nonspherocytic haemolytic anaemia due to glucose phosphate isomerase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3447861001000114 Hämolytische Anämie durch Glukosephosphat-Isomerase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6290371000241116 anémie hémolytique héréditaire non sphérocytaire due à un déficit en GPI (glucose phosphate isomérase) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6290381000241119 anémie hémolytique héréditaire non sphérocytaire due à un déficit en glucose phosphate isomérase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6290371000241116 anémie hémolytique héréditaire non sphérocytaire due à un déficit en GPI (glucose phosphate isomérase) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6290381000241119 anémie hémolytique héréditaire non sphérocytaire due à un déficit en glucose phosphate isomérase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3447861001000114 Hämolytische Anämie durch Glukosephosphat-Isomerase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
HNSHA due to glucose phosphate isomerase deficiency	Is a	Inborn error of metabolism	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glucose phosphate isomerase deficiency	Is a	Anemia due to enzyme deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glucose phosphate isomerase deficiency	Is a	Congenital anomaly of the haematopoietic system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glucose phosphate isomerase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glucose phosphate isomerase deficiency	Is a	Erythrocyte enzyme deficiency	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glucose phosphate isomerase deficiency	Is a	Hereditary disorder of haematologic sysem	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glucose phosphate isomerase deficiency	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glucose phosphate isomerase deficiency	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
HNSHA due to glucose phosphate isomerase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glucose phosphate isomerase deficiency	Is a	Glucose phosphate isomerase deficiency	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glucose phosphate isomerase deficiency	Is a	Hereditary nonspherocytic haemolytic anaemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glucose phosphate isomerase deficiency	Associated etiologic finding	Enzymopathy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glucose phosphate isomerase deficiency	Associated etiologic finding	Glucose phosphate isomerase deficiency	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glucose phosphate isomerase deficiency	Has definitional manifestation	érythropénie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glucose phosphate isomerase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glucose phosphate isomerase deficiency	Due to	Enzymopathy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
HNSHA due to glucose phosphate isomerase deficiency	Due to	Glucose phosphate isomerase deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
HNSHA due to glucose phosphate isomerase deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glucose phosphate isomerase deficiency	Has definitional manifestation	Hemolysis	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glucose phosphate isomerase deficiency	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
HNSHA due to glucose phosphate isomerase deficiency	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
HNSHA due to glucose phosphate isomerase deficiency	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
HNSHA due to glucose phosphate isomerase deficiency	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
HNSHA due to glucose phosphate isomerase deficiency	Interprets	Erythrocyte destruction	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glucose phosphate isomerase deficiency	Has interpretation	Present (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
HNSHA due to glucose phosphate isomerase 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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
87225015	HNSHA due to glucose phosphate isomerase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2620876016	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to glucose phosphate isomerase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2620877013	Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to glucose phosphate isomerase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2914519017	Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2915251014	Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3780598012	Hereditary nonspherocytic haemolytic anaemia due to glucose phosphate isomerase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
87225015	HNSHA due to glucose phosphate isomerase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
790420015	HNSHA due to glucose phosphate isomerase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
790420015	HNSHA due to glucose phosphate isomerase deficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2612429013	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to glucose phosphate isomerase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2620876016	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to glucose phosphate isomerase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2620877013	Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to glucose phosphate isomerase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2914519017	Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2914519017	Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2915251014	Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2915251014	Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3780598012	Hereditary nonspherocytic haemolytic anaemia due to glucose phosphate isomerase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3447861001000114	Hämolytische Anämie durch Glukosephosphat-Isomerase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6290371000241116	anémie hémolytique héréditaire non sphérocytaire due à un déficit en GPI (glucose phosphate isomérase)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6290381000241119	anémie hémolytique héréditaire non sphérocytaire due à un déficit en glucose phosphate isomérase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6290371000241116	anémie hémolytique héréditaire non sphérocytaire due à un déficit en GPI (glucose phosphate isomérase)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6290381000241119	anémie hémolytique héréditaire non sphérocytaire due à un déficit en glucose phosphate isomérase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3447861001000114	Hämolytische Anämie durch Glukosephosphat-Isomerase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module