62268000: Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase 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 diphosphoglycerate mutase 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 diphosphoglycerate mutase 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 diphosphoglycerate mutase 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 diphosphoglycerate mutase 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 diphosphoglycerate mutase 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 diphosphoglycerate mutase 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 diphosphoglycerate mutase deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Red blood cell disorder\Erythrocyte enzyme deficiency\HNSHA due to diphosphoglycerate mutase 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 diphosphoglycerate mutase 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 diphosphoglycerate mutase 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 diphosphoglycerate mutase 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 diphosphoglycerate mutase 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 diphosphoglycerate mutase 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 diphosphoglycerate mutase 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 diphosphoglycerate mutase 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 diphosphoglycerate mutase 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 diphosphoglycerate mutase 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 diphosphoglycerate mutase 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 diphosphoglycerate mutase 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 diphosphoglycerate mutase 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 diphosphoglycerate mutase 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 diphosphoglycerate mutase 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 diphosphoglycerate mutase deficiency

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

\Anemia due to enzyme deficiency\HNSHA due to diphosphoglycerate mutase deficiency

\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase 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 diphosphoglycerate mutase deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\HNSHA due to diphosphoglycerate mutase 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 diphosphoglycerate mutase 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 diphosphoglycerate mutase deficiency
\Disease\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to diphosphoglycerate mutase deficiency
\Disease\Disorder of cellular component of blood\Anaemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Disease\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to diphosphoglycerate mutase deficiency
\Disease\Disorder of cellular component of blood\Hemolytic disorder (disorder)\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase 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 diphosphoglycerate mutase deficiency
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Erythrocyte enzyme deficiency\HNSHA due to diphosphoglycerate mutase 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 diphosphoglycerate mutase 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 diphosphoglycerate mutase deficiency
\Disease\Disorder of body system\Red blood cell disorder\Erythrocyte enzyme deficiency\HNSHA due to diphosphoglycerate mutase 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

103490017 HNSHA due to diphosphoglycerate mutase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2621004014 Hereditary nonspherocytic hemolytic anemia (HNSHA) due to diphosphoglycerate mutase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2621005010 Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to diphosphoglycerate mutase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2913737012 Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2914465016 Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3780588018 Hereditary nonspherocytic haemolytic anaemia due to diphosphoglycerate mutase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

103490017 HNSHA due to diphosphoglycerate mutase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

801421014 HNSHA due to diphosphoglycerate mutase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

801421014 HNSHA due to diphosphoglycerate mutase deficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

2612519016 Hereditary nonspherocytic hemolytic anemia (HNSHA) due to diphosphoglycerate mutase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2621004014 Hereditary nonspherocytic hemolytic anemia (HNSHA) due to diphosphoglycerate mutase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2621005010 Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to diphosphoglycerate mutase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2913737012 Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2913737012 Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2914465016 Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2914465016 Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3780588018 Hereditary nonspherocytic haemolytic anaemia due to diphosphoglycerate mutase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3433121001000118 Hämolytische Anämie durch Diphosphoglycerat-Mutase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6250471000241115 anémie hémolytique héréditaire non sphérocytaire due à un déficit en BPGM (biphosphoglycérate mutase) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6250481000241118 anémie hémolytique héréditaire non sphérocytaire due à un déficit en biphosphoglycérate mutase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6250471000241115 anémie hémolytique héréditaire non sphérocytaire due à un déficit en BPGM (biphosphoglycérate mutase) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6250481000241118 anémie hémolytique héréditaire non sphérocytaire due à un déficit en biphosphoglycérate mutase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3433121001000118 Hämolytische Anämie durch Diphosphoglycerat-Mutase-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 diphosphoglycerate mutase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to diphosphoglycerate mutase deficiency	Is a	Erythrocyte enzyme deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to diphosphoglycerate mutase deficiency	Is a	Hereditary disorder of haematologic sysem	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to diphosphoglycerate mutase deficiency	Is a	Anemia due to enzyme deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to diphosphoglycerate mutase deficiency	Is a	Congenital anomaly of the haematopoietic system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to diphosphoglycerate mutase deficiency	Is a	Inborn error of metabolism	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to diphosphoglycerate mutase deficiency	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
HNSHA due to diphosphoglycerate mutase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to diphosphoglycerate mutase deficiency	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to diphosphoglycerate mutase deficiency	Is a	Deficiency of bisphosphoglycerate mutase	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to diphosphoglycerate mutase deficiency	Is a	Hereditary nonspherocytic haemolytic anaemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to diphosphoglycerate mutase deficiency	Associated etiologic finding	Enzymopathy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to diphosphoglycerate mutase deficiency	Associated etiologic finding	Deficiency of bisphosphoglycerate mutase	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to diphosphoglycerate mutase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to diphosphoglycerate mutase deficiency	Has definitional manifestation	érythropénie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to diphosphoglycerate mutase deficiency	Due to	Deficiency of bisphosphoglycerate mutase	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
HNSHA due to diphosphoglycerate mutase deficiency	Has definitional manifestation	Hemolysis	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to diphosphoglycerate mutase deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to diphosphoglycerate mutase deficiency	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
HNSHA due to diphosphoglycerate mutase deficiency	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
HNSHA due to diphosphoglycerate mutase deficiency	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
HNSHA due to diphosphoglycerate mutase deficiency	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
HNSHA due to diphosphoglycerate mutase deficiency	Interprets	Erythrocyte destruction	false	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to diphosphoglycerate mutase deficiency	Has interpretation	Present (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
HNSHA due to diphosphoglycerate mutase 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
103490017	HNSHA due to diphosphoglycerate mutase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2621004014	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to diphosphoglycerate mutase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2621005010	Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to diphosphoglycerate mutase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2913737012	Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2914465016	Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3780588018	Hereditary nonspherocytic haemolytic anaemia due to diphosphoglycerate mutase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
103490017	HNSHA due to diphosphoglycerate mutase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
801421014	HNSHA due to diphosphoglycerate mutase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
801421014	HNSHA due to diphosphoglycerate mutase deficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2612519016	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to diphosphoglycerate mutase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2621004014	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to diphosphoglycerate mutase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2621005010	Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to diphosphoglycerate mutase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2913737012	Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2913737012	Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2914465016	Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2914465016	Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3780588018	Hereditary nonspherocytic haemolytic anaemia due to diphosphoglycerate mutase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3433121001000118	Hämolytische Anämie durch Diphosphoglycerat-Mutase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6250471000241115	anémie hémolytique héréditaire non sphérocytaire due à un déficit en BPGM (biphosphoglycérate mutase)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6250481000241118	anémie hémolytique héréditaire non sphérocytaire due à un déficit en biphosphoglycérate mutase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6250471000241115	anémie hémolytique héréditaire non sphérocytaire due à un déficit en BPGM (biphosphoglycérate mutase)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6250481000241118	anémie hémolytique héréditaire non sphérocytaire due à un déficit en biphosphoglycérate mutase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3433121001000118	Hämolytische Anämie durch Diphosphoglycerat-Mutase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module