62268000: Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder)

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

\Evaluation finding\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\RBC count low\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to diphosphoglycerate mutase deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\RBC count low\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to diphosphoglycerate mutase deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\RBC count low\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to diphosphoglycerate mutase deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\RBC count low\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Evaluation finding\Measurement finding\Red blood cell count - finding\RBC count abnormal\RBC count low\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to diphosphoglycerate mutase deficiency
\Evaluation finding\Measurement finding\Red blood cell count - finding\RBC count abnormal\RBC count low\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency

\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency

\Functional finding\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Functional finding\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to diphosphoglycerate mutase deficiency
\Functional finding\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency

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

822631000052113 ärftlig icke-sfärocytär hemolytisk anemi orsakad av difosfoglyceratmutasbrist sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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	Some
HNSHA due to diphosphoglycerate mutase deficiency	Is a	Erythrocyte enzyme deficiency	true	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Is a	Hereditary disorder of hematologic system	false	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Is a	Anemia due to enzyme deficiency	true	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Is a	Inborn error of metabolism	false	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Finding site	Erythrocyte	true	Inferred relationship	Some	4
HNSHA due to diphosphoglycerate mutase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Is a	Deficiency of bisphosphoglycerate mutase	false	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Is a	Hereditary nonspherocytic haemolytic anaemia	true	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Associated etiologic finding	Enzymopathy	false	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Associated etiologic finding	Deficiency of bisphosphoglycerate mutase	false	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Has definitional manifestation	erytropeni	false	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Due to	Deficiency of bisphosphoglycerate mutase	true	Inferred relationship	Some	5
HNSHA due to diphosphoglycerate mutase deficiency	Has definitional manifestation	Hemolysis	false	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Has interpretation	Below reference range	true	Inferred relationship	Some	1
HNSHA due to diphosphoglycerate mutase deficiency	Interprets	Red blood cell count	true	Inferred relationship	Some	1
HNSHA due to diphosphoglycerate mutase deficiency	Has interpretation	Below reference range	true	Inferred relationship	Some	2
HNSHA due to diphosphoglycerate mutase deficiency	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
HNSHA due to diphosphoglycerate mutase deficiency	Interprets	Erythrocyte destruction	false	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Has interpretation	Present	true	Inferred relationship	Some	3
HNSHA due to diphosphoglycerate mutase deficiency	Interprets	Hemolysis (observable entity)	true	Inferred relationship	Some	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
822631000052113	ärftlig icke-sfärocytär hemolytisk anemi orsakad av difosfoglyceratmutasbrist	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)