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91689009: Body system structure (body structure)


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

Descriptions:

Id Description Lang Type Status Case? Module
151907017 Organ system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
509587013 Body system structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
835054011 Body system structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4180721000005118 struktur af organsystem da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


32409 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Body system structure Is a Anatomical structure true Inferred relationship Some
Body system structure del af Entire body as a whole false Additional relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Sulfite oxidase deficiency Finding site False Body system structure Inferred relationship Some
Cystinosis Finding site False Body system structure Inferred relationship Some
Alcaptonuria Finding site False Body system structure Inferred relationship Some
Hemosiderosis Finding site False Body system structure Inferred relationship Some
Lysinuric protein intolerance Finding site False Body system structure Inferred relationship Some
Glutathione synthase deficiency with 5-oxoprolinuria Finding site False Body system structure Inferred relationship Some
hypernatriæmi Finding site False Body system structure Inferred relationship Some
Niemann-Pick disease, type B Finding site False Body system structure Inferred relationship Some
Fructose metabolism disorder (disorder) Finding site False Body system structure Inferred relationship Some
Secondary hemosiderosis Finding site False Body system structure Inferred relationship Some
Disorder of fatty acid metabolism Finding site False Body system structure Inferred relationship Some
Essential benign fructosuria Finding site False Body system structure Inferred relationship Some
4-Hydroxyphenylpyruvate dioxygenase deficiency Finding site False Body system structure Inferred relationship Some
Ascorbic acid toxicity Finding site False Body system structure Inferred relationship Some
Multiple vitamin deficiency disease Finding site False Body system structure Inferred relationship Some
Amyloid of familial Mediterranean fever Finding site False Body system structure Inferred relationship Some
Persistent hyperphenylalaninemia AND tyrosinemia Finding site False Body system structure Inferred relationship Some
Chronic hyperkalemia Finding site False Body system structure Inferred relationship Some
Metachromatic leukodystrophy, congenital type Finding site False Body system structure Inferred relationship Some
Sulfite oxidase deficiency syndrome Finding site False Body system structure Inferred relationship Some
Argininosuccinate lyase deficiency Finding site False Body system structure Inferred relationship Some
Classical galactosemia, heterozygous type Finding site False Body system structure Inferred relationship Some
Mucopolysaccharidosis, MPS-III-A Finding site False Body system structure Inferred relationship Some
5,10-Methylenetetrahydrofolate reductase deficiency Finding site False Body system structure Inferred relationship Some
Methylmalonic acidemia Finding site False Body system structure Inferred relationship Some
Hyponatremia with excess extracellular fluid volume Finding site False Body system structure Inferred relationship Some
Inborn error of amino acid metabolism Finding site False Body system structure Inferred relationship Some
Hypermethioninemia Finding site False Body system structure Inferred relationship Some
metabolisk acidose forårsaget af indtagelse af medikamenter OG/ELLER kemiske stoffer Finding site False Body system structure Inferred relationship Some
Hypokalemia Finding site False Body system structure Inferred relationship Some
Inborn error of lipoprotein metabolism Finding site False Body system structure Inferred relationship Some
Body fluid retention (finding) Finding site False Body system structure Inferred relationship Some
Chromium deficiency Finding site False Body system structure Inferred relationship Some
Drug-induced porphyria Finding site False Body system structure Inferred relationship Some
Neuro-ophthalmological procedure Procedure site False Body system structure Inferred relationship Some 3
Mucopolysaccharidosis, MPS-VII Finding site False Body system structure Inferred relationship Some
Smith-Lemli-Opitz syndrome Finding site False Body system structure Inferred relationship Some
Persistent hyperphenylalaninemia Finding site False Body system structure Inferred relationship Some
Reverse intrinsic-plus test Procedure site False Body system structure Inferred relationship Some 1
Adenosylcobalamin and methylcobalamin synthesis defect Finding site False Body system structure Inferred relationship Some
Disorder of histidine metabolism Finding site False Body system structure Inferred relationship Some
Metachromatic leukodystrophy, juvenile type Finding site False Body system structure Inferred relationship Some
Muscular ossification Finding site False Body system structure Inferred relationship Some
Porphyruria Finding site False Body system structure Inferred relationship Some
glucoaminophosphaturi-syndrom Finding site False Body system structure Inferred relationship Some
reduceret væskevolumen ved ekstrarenalt tab Finding site False Body system structure Inferred relationship Some
Disorder of amino acid metabolism Finding site False Body system structure Inferred relationship Some
Gopalan's syndrome Finding site False Body system structure Inferred relationship Some
Orbicularis oculi reflex test Procedure site False Body system structure Inferred relationship Some 2
Sepiapterin reductase deficiency Finding site False Body system structure Inferred relationship Some
Glycoprolinuria Finding site False Body system structure Inferred relationship Some
Hypouricemia Finding site False Body system structure Inferred relationship Some
Disorder of mineral metabolism Finding site False Body system structure Inferred relationship Some
Acute hyponatremia Finding site False Body system structure Inferred relationship Some
Compensated metabolic acidosis Finding site False Body system structure Inferred relationship Some
Aminoacidemia Finding site False Body system structure Inferred relationship Some
Pyruvate dehydrogenase complex deficiency Finding site False Body system structure Inferred relationship Some
Disorder of zinc metabolism Finding site False Body system structure Inferred relationship Some
Metabolic acidosis caused by paraldehyde (disorder) Finding site False Body system structure Inferred relationship Some
Inherited disorder of folate metabolism Finding site False Body system structure Inferred relationship Some
volumendepletion, gastrointestinal tab Finding site False Body system structure Inferred relationship Some
Manganese deficiency Finding site False Body system structure Inferred relationship Some
Secondary porphyria Finding site False Body system structure Inferred relationship Some
Orotic aciduria Finding site False Body system structure Inferred relationship Some
Metachromatic leukodystrophy, late infantile type Finding site False Body system structure Inferred relationship Some
Humoural hypercalcaemia of malignancy Finding site False Body system structure Inferred relationship Some
Hypervalinemia Finding site False Body system structure Inferred relationship Some
Vitamin B deficiency Finding site False Body system structure Inferred relationship Some
Glutathionemia Finding site False Body system structure Inferred relationship Some
Bilirubinuria Finding site False Body system structure Inferred relationship Some
Disorder of lipoprotein AND/OR lipid metabolism Finding site False Body system structure Inferred relationship Some
An inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and in some cases intellectual deficit. Skin lesions occur in 80% of cases, ocular involvement in 75% of cases and neurologic findings and some degree of intellectual deficit in up to 60% of cases. Onset is variable but the ocular symptoms (redness, photophobia, excessive tearing and pain) usually develop in the first year of life. Cutaneous manifestations usually begin after the first year of life but may develop at the same time as the ocular symptoms. Caused by mutations in the TAT gene (16q22.1) encoding tyrosine aminotransferase (TAT). The elevated levels of tyrosine caused by TAT deficiency appear to result in deposition of tyrosine crystals leading to an inflammatory response and the oculocutaneous findings. Transmitted as an autosomal recessive trait. Finding site False Body system structure Inferred relationship Some
Uric acid level above reference range (finding) Finding site False Body system structure Inferred relationship Some
Deficiency of acetyl-coenzyme A carboxylase (disorder) Finding site False Body system structure Inferred relationship Some
Disorder of chromium metabolism Finding site False Body system structure Inferred relationship Some
Compensated alkalosis Finding site False Body system structure Inferred relationship Some
Biotin deficiency disease Finding site False Body system structure Inferred relationship Some
Succinate-semialdehyde dehydrogenase deficiency (disorder) Finding site False Body system structure Inferred relationship Some
Hypophosphatemia Finding site False Body system structure Inferred relationship Some
Familial lipoprotein deficiency Finding site False Body system structure Inferred relationship Some
Lysinuric protein intolerance, type 1 Finding site False Body system structure Inferred relationship Some
Chronic hyponatremia Finding site False Body system structure Inferred relationship Some
Iliac compression test Procedure site False Body system structure Inferred relationship Some 1
Leukodystrophy Finding site False Body system structure Inferred relationship Some
Erythropoietic protoporphyria Finding site False Body system structure Inferred relationship Some
Metabolic acidosis, IAG, accumulation of organic acids Finding site False Body system structure Inferred relationship Some
Acidosis Finding site False Body system structure Inferred relationship Some
Disorder of tryptophan metabolism Finding site False Body system structure Inferred relationship Some
Acquired monosaccharide malabsorption Finding site False Body system structure Inferred relationship Some
Volume excess, disturbed Starling forces Finding site False Body system structure Inferred relationship Some
Intermittent branched-chain ketonuria Finding site False Body system structure Inferred relationship Some
Homocystinemia Finding site False Body system structure Inferred relationship Some
Fumarylacetoacetase deficiency, chronic type Finding site False Body system structure Inferred relationship Some
Osmolality disturbance Finding site False Body system structure Inferred relationship Some
Vitamin K deficiency Finding site False Body system structure Inferred relationship Some
Hypercalcemia due to granulomatous disease Finding site False Body system structure Inferred relationship Some
Hypocalcemia Finding site False Body system structure Inferred relationship Some
Prolinuria Finding site False Body system structure Inferred relationship Some
Inborn error of pyruvate metabolism Finding site False Body system structure Inferred relationship Some
Metabolic acidosis, IAG, reduced excretion of inorganic acids Finding site False Body system structure Inferred relationship Some
Phosphoenolpyruvate carboxykinase (GTP) deficiency Finding site False Body system structure Inferred relationship Some

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Reference Sets

Anatomy structure and entire association reference set (foundation metadata concept)

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