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234401000: deficiëntie van erytrocytair enzym (aandoening)

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

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency

\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency
\Disease\Disorder of body system\Hematological disorder (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Erythrocyte enzyme deficiency	Is a	Red blood cell disorder	true	Inferred relationship	Some
Erythrocyte enzyme deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Erythrocyte enzyme deficiency	Finding site	Erythrocyte	true	Inferred relationship	Some	1
Erythrocyte enzyme deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Erythrocyte enzyme deficiency	Has definitional manifestation	Red blood cell finding	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Chronic non-spherocytic haemolytic anaemia	Is a	True	Erythrocyte enzyme deficiency	Inferred relationship	Some
Phosphoglycerokinase deficiency	Is a	True	Erythrocyte enzyme deficiency	Inferred relationship	Some
Glucose phosphate isomerase deficiency	Is a	True	Erythrocyte enzyme deficiency	Inferred relationship	Some
Triose phosphate isomerase deficiency	Is a	True	Erythrocyte enzyme deficiency	Inferred relationship	Some
ziekte van Tarui	Is a	False	Erythrocyte enzyme deficiency	Inferred relationship	Some
Uridine monophosphate hydrolase deficiency	Is a	True	Erythrocyte enzyme deficiency	Inferred relationship	Some
Adenosine deaminase overproduction	Is a	True	Erythrocyte enzyme deficiency	Inferred relationship	Some
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	Is a	False	Erythrocyte enzyme deficiency	Inferred relationship	Some
HNSHA due to glutathione synthetase deficiency	Is a	True	Erythrocyte enzyme deficiency	Inferred relationship	Some
Deficiency of glucose-6-phosphate dehydrogenase (disorder)	Is a	True	Erythrocyte enzyme deficiency	Inferred relationship	Some
Deficiency of hexokinase	Is a	True	Erythrocyte enzyme deficiency	Inferred relationship	Some
Hereditary stomatocytosis	Is a	True	Erythrocyte enzyme deficiency	Inferred relationship	Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Is a	True	Erythrocyte enzyme deficiency	Inferred relationship	Some
HNSHA due to pyrimidine-5'-nucleotidase deficiency	Is a	True	Erythrocyte enzyme deficiency	Inferred relationship	Some
HNSHA due to phosphofructokinase deficiency	Is a	True	Erythrocyte enzyme deficiency	Inferred relationship	Some
HNSHA due to hexokinase deficiency	Is a	True	Erythrocyte enzyme deficiency	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Is a	True	Erythrocyte enzyme deficiency	Inferred relationship	Some
HNSHA due to NADH diaphorase deficiency	Is a	True	Erythrocyte enzyme deficiency	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency (disorder)	Is a	False	Erythrocyte enzyme deficiency	Inferred relationship	Some
HNSHA due to glucose phosphate isomerase deficiency	Is a	False	Erythrocyte enzyme deficiency	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to increased adenosine deaminase activity (disorder)	Is a	False	Erythrocyte enzyme deficiency	Inferred relationship	Some
HNSHA due to phosphoglycerate kinase deficiency	Is a	True	Erythrocyte enzyme deficiency	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Is a	True	Erythrocyte enzyme deficiency	Inferred relationship	Some
erfelijke niet-sferocytaire hemolytische anemie door NADH-methemoglobinereductasedeficiëntie (aandoening)	Is a	False	Erythrocyte enzyme deficiency	Inferred relationship	Some
HNSHA due to decreased adenosine deaminase activity	Is a	True	Erythrocyte enzyme deficiency	Inferred relationship	Some
Deficiency of glutathione reductase (NAD(P)H)	Is a	True	Erythrocyte enzyme deficiency	Inferred relationship	Some
Screening test for red cell enzyme deficiency	Has focus	True	Erythrocyte enzyme deficiency	Inferred relationship	Some	2
Overhydrated hereditary stomatocytosis (disorder)	Is a	True	Erythrocyte enzyme deficiency	Inferred relationship	Some
Southeast Asian ovalocytosis (disorder)	Is a	True	Erythrocyte enzyme deficiency	Inferred relationship	Some
Dehydrated hereditary stomatocytosis (disorder)	Is a	True	Erythrocyte enzyme deficiency	Inferred relationship	Some
Familial pseudohyperkalemia (disorder)	Is a	True	Erythrocyte enzyme deficiency	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
351187018	Erythrocyte enzyme deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
622714019	Erythrocyte enzyme deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
10179321000146110	deficiëntie van erytrocytair enzym	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10179331000146112	deficiëntie van erytrocytair enzym (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11286541000146117	deficiëntie van enzym van rode bloedcel	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)