75934005: stoornis van metabolisme (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease

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
Metabolic disease	Is a	Disorder of body system	false	Inferred relationship	Some
Metabolic disease	Finding site	Body system structure	false	Inferred relationship	Some
Metabolic disease	Is a	Endocrine, nutritional, metabolic and immunity disorders	false	Inferred relationship	Some
Metabolic disease	Is a	Disorder of body system	false	Inferred relationship	Some
Metabolic disease	Is a	Disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Kerasin thesaurismosis (disorder)	Is a	False	Metabolic disease	Inferred relationship	Some
Metabolic renal disease	Is a	True	Metabolic disease	Inferred relationship	Some
Runting syndrome	Is a	False	Metabolic disease	Inferred relationship	Some
Metabolic and genetic disorder affecting the liver	Is a	True	Metabolic disease	Inferred relationship	Some
Synthetic defect of bile acids (disorder)	Is a	False	Metabolic disease	Inferred relationship	Some
Disorder of osmoregulation	Is a	True	Metabolic disease	Inferred relationship	Some
Disorder of blood gas	Is a	True	Metabolic disease	Inferred relationship	Some
Dilated cardiomyopathy due to metabolic disorder (disorder)	Is a	False	Metabolic disease	Inferred relationship	Some
Metabolic disorder of transport	Is a	True	Metabolic disease	Inferred relationship	Some
Abortion complicated by metabolic disorder	Is a	False	Metabolic disease	Inferred relationship	Some
Disorder of organic acid metabolism	Is a	True	Metabolic disease	Inferred relationship	Some
Disorder of iodine metabolism (disorder)	Is a	True	Metabolic disease	Inferred relationship	Some
Acute metabolic disorder	Is a	True	Metabolic disease	Inferred relationship	Some
Chronic metabolic disorder	Is a	True	Metabolic disease	Inferred relationship	Some
Disorder of neurometabolic regulation	Is a	True	Metabolic disease	Inferred relationship	Some
Amyloidosis	Is a	False	Metabolic disease	Inferred relationship	Some
Disorder of carbohydrate metabolism	Is a	True	Metabolic disease	Inferred relationship	Some
Endocrine AND/OR metabolic disorder specific to the fetus OR newborn	Is a	False	Metabolic disease	Inferred relationship	Some
Disorder of acid-base balance	Is a	True	Metabolic disease	Inferred relationship	Some
Disorder of steroid metabolism	Is a	True	Metabolic disease	Inferred relationship	Some
Generalized metabolic disorder	Is a	True	Metabolic disease	Inferred relationship	Some
stoornis van metabolisme na molazwangerschap en/of ectopische zwangerschap (aandoening)	Is a	False	Metabolic disease	Inferred relationship	Some
Corneal deposit associated with metabolic disorder	Is a	False	Metabolic disease	Inferred relationship	Some
Uremia	Is a	False	Metabolic disease	Inferred relationship	Some
Disorder of mineral metabolism	Is a	True	Metabolic disease	Inferred relationship	Some
Metabolic encephalopathy	Is a	True	Metabolic disease	Inferred relationship	Some
Metabolic bone disease	Is a	True	Metabolic disease	Inferred relationship	Some
Salt-wasting syndrome of infancy	Is a	False	Metabolic disease	Inferred relationship	Some
Rowley-Rosenberg syndrome	Is a	True	Metabolic disease	Inferred relationship	Some
Polyuric state	Is a	True	Metabolic disease	Inferred relationship	Some
Failed attempted abortion complicated by metabolic disorder (disorder)	Is a	False	Metabolic disease	Inferred relationship	Some
Proteinosis	Is a	False	Metabolic disease	Inferred relationship	Some
Disorder of beta alanine, carnosine AND/OR homocarnosine metabolism	Is a	True	Metabolic disease	Inferred relationship	Some
Alstrom syndrome	Is a	False	Metabolic disease	Inferred relationship	Some
deficiëntie van pancreastrypsinogeen	Is a	False	Metabolic disease	Inferred relationship	Some
Localized metabolic disorder	Is a	True	Metabolic disease	Inferred relationship	Some
Vitamin disease (disorder)	Is a	False	Metabolic disease	Inferred relationship	Some
Disorder of fluid AND/OR electrolyte	Is a	True	Metabolic disease	Inferred relationship	Some
Enzymopathy	Is a	True	Metabolic disease	Inferred relationship	Some
Disorder of bilirubin metabolism	Is a	False	Metabolic disease	Inferred relationship	Some
Renal secondary osteodystrophia fibrosa	Is a	False	Metabolic disease	Inferred relationship	Some
Inborn error of metabolism	Is a	False	Metabolic disease	Inferred relationship	Some
Kidney crystallization	Is a	False	Metabolic disease	Inferred relationship	Some
Disorder of protein metabolism	Is a	True	Metabolic disease	Inferred relationship	Some
Other disorder of plasma protein metabolism	Is a	False	Metabolic disease	Inferred relationship	Some
Disorder of plasma protein metabolism NOS	Is a	False	Metabolic disease	Inferred relationship	Some
Other disorders of metabolism	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Other hyperphenylalaninemias	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Other disorders of aromatic amino acid metabolism	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Other disorders of branched chain amino acid metabolism	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Other specified disorders of amino acid metabolism	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Other lactose intolerance	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Other disorders of intestinal carbohydrate absorption	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Other specified disorders of carbohydrate metabolism	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Other gangliosidosis	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Other sphingolipidosis	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Other lipid storage disorders	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Other mucopolysaccharidoses	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Other disorders of glucosaminoglycan metabolism	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Other glycoprotein metabolism disorders	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Other hyperlipidemia	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Other disorders of lipoprotein metabolism	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Other disorders of purine and pyrimidine metabolism	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Other porphyria	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Other bilirubin metabolism disorders	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Other disorders of mineral metabolism	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Other amyloidosis	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Other electrolyte and fluid disorders, not elsewhere classified	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Other specified disorders of metabolism	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Other postprocedural endocrine and metabolic disorders	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Nutritional and metabolic disorders in diseases classified elsewhere	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Disorder of glucosaminoglycan metabolism, unspecified	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Disorder of glycoprotein metabolism, unspecified	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Disorder of bilirubin metabolism, unspecified	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Heredofamilial amyloidosis, unspecified	Is a	False	Metabolic disease	Inferred relationship	Some
[X]Postprocedural endocrine and metabolic disorder, unspecified	Is a	False	Metabolic disease	Inferred relationship	Some
Other plasma protein/mineral	Is a	False	Metabolic disease	Inferred relationship	Some
Family history of metabolic disorder	Associated finding	False	Metabolic disease	Inferred relationship	Some	1
FH: Nutritional deficiency	Associated finding	False	Metabolic disease	Inferred relationship	Some
FH: Obesity	Associated finding	False	Metabolic disease	Inferred relationship	Some
Family history: Cholinesterase deficiency	Associated finding	False	Metabolic disease	Inferred relationship	Some
H/O: nutritional disorder	Associated finding	False	Metabolic disease	Inferred relationship	Some
H/O: obesity	Associated finding	False	Metabolic disease	Inferred relationship	Some
H/O: metabolic disorder	Associated finding	False	Metabolic disease	Inferred relationship	Some	1
Family history: Metabolic disorder NOS	Associated finding	False	Metabolic disease	Inferred relationship	Some	1
History of - metabolic disorder NOS	Associated finding	False	Metabolic disease	Inferred relationship	Some	1
Tumor lysis syndrome	Is a	True	Metabolic disease	Inferred relationship	Some
Hyperproteinemia	Is a	False	Metabolic disease	Inferred relationship	Some
Disorder of lipoprotein AND/OR lipid metabolism	Is a	True	Metabolic disease	Inferred relationship	Some
Hypoproteinemia	Is a	True	Metabolic disease	Inferred relationship	Some
Metabolic disorder following abortive pregnancy	Is a	False	Metabolic disease	Inferred relationship	Some
Seizures due to metabolic disorder (disorder)	Associated etiologic finding	False	Metabolic disease	Inferred relationship	Some
Phenylalanine-free diet education (procedure)	Has focus	False	Metabolic disease	Inferred relationship	Some
Inborn error of metabolism diet education (procedure)	Has focus	False	Metabolic disease	Inferred relationship	Some
Amino acid metabolism disorder diet education (procedure)	Has focus	False	Metabolic disease	Inferred relationship	Some
Phenylketonuria diet education (procedure)	Has focus	False	Metabolic disease	Inferred relationship	Some
Seizures due to metabolic disorder (disorder)	Temporally follows	False	Metabolic disease	Inferred relationship	Some
Family history of hemochromatosis (situation)	Associated finding	False	Metabolic disease	Inferred relationship	Some	1
Clinical manifestation of enzyme deficiency (disorder)	Is a	True	Metabolic disease	Inferred relationship	Some
Metabolic disease of collagen	Is a	True	Metabolic disease	Inferred relationship	Some
Seizures due to metabolic disorder (disorder)	Due to	True	Metabolic disease	Inferred relationship	Some	1

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Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Dutch pathology simple reference set (foundation metadata concept)

Simple reference set of sections of e-transfer of nursing data

Simple reference set of Dutch nursing problems with sections of e-transfer

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Id	Description	Lang	Type	Status	Case?	Module
126129015	Metabolic disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
126132017	Metabolic disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
816599012	Metabolic disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1233936011	MD - Metabolic disorders	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
55991000146113	stofwisselingsstoornis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
132141000146116	stofwisselingsziekte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7987621000146110	stoornis van metabolisme (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8007021000146118	stoornis van metabolisme	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10681701000146114	Aandoeningen waarbij de aanmaak of de verwerking van één duidelijk omschreven chemische stof in het lichaam is verstoord, zodat een teveel of tekort aan die stof ontstaat, meestal veroorzaakt door een enzymtekort.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13060081000146115	Klachten door problemen met de stofwisseling. Stofwisseling is de verbranding in het lichaam.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)