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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
151907017 Organ system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
12681000077117 structure d'un système corporel fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
12681000077117 structure d'un système corporel fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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 Existential restriction modifier (core metadata concept)
Body system structure partie de Entire body as a whole (body structure) false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Sulfite oxidase deficiency Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Cystinosis Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Alcaptonuria Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Hemosiderosis Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Lysinuric protein intolerance Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Glutathione synthase deficiency with 5-oxoprolinuria Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
hypernatrémie Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Niemann-Pick disease, type B Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Fructose metabolism disorder (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Secondary haemosiderosis Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of fatty acid metabolism (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Essential benign fructosuria Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
4-Hydroxyphenylpyruvate dioxygenase deficiency Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Ascorbic acid toxicity (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Multiple vitamin deficiency disease Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Amyloid of familial Mediterranean fever Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Persistent hyperphenylalaninaemia AND tyrosinaemia Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Chronic hyperkalemia Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Metachromatic leukodystrophy, congenital type Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Sulphite oxidase deficiency syndrome Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Argininosuccinate lyase deficiency Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Classical galactosemia, heterozygous type Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis, MPS-III-A Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
5,10-Methylenetetrahydrofolate reductase deficiency Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Methylmalonic acidemia Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Hyponatremia with excess extracellular fluid volume (finding) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Inborn error of amino acid metabolism Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Hypermethioninaemia Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Metabolic acidosis caused by ingestion of drugs AND/OR chemicals Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Hypokalemia (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Inborn error of lipoprotein metabolism Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Body fluid retention (finding) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Chromium deficiency Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Drug-induced porphyria Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Neuro-ophthalmological procedure (procedure) Procedure site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Mucopolysaccharidosis, MPS-VII Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Smith-Lemli-Opitz syndrome Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Persistent hyperphenylalaninemia Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Reverse intrinsic-plus test Procedure site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Adenosylcobalamin and methylcobalamin synthesis defect Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of histidine metabolism Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Metachromatic leucodystrophy, juvenile type Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Muscular ossification Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Porphyruria Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Glucoaminophosphaturia syndrome Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
hypovolémie par perte extra-rénale Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of amino acid metabolism (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Gopalan's syndrome Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Orbicularis oculi reflex test Procedure site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Sepiapterin reductase deficiency (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Glycoprolinuria Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Hypouricemia Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of mineral metabolism Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Acute hyponatremia Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Compensated metabolic acidosis Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Aminoacidaemia Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Pyruvate dehydrogenase complex deficiency Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of zinc metabolism (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Metabolic acidosis caused by paraldehyde (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Inherited disorder of folate metabolism Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
hypovolémie par perte gastro-intestinale Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Manganese deficiency Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Secondary porphyria (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Orotic aciduria (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Metachromatic leukodystrophy, late infantile type Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Humoral hypercalcemia of malignancy Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Hypervalinemia (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Vitamin B deficiency Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Glutathionemia Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Bilirubinuria Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of lipoprotein AND/OR lipid metabolism Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Increased uric acid level Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of acetyl-coenzyme A carboxylase (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of chromium metabolism (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Compensated alkalosis Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Biotin deficiency disease Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Succinate-semialdehyde dehydrogenase deficiency (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Hypophosphatemia Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Familial lipoprotein deficiency Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Lysinuric protein intolerance, type 1 (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Chronic hyponatraemia Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Iliac compression test Procedure site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Leukodystrophy Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Erythropoietic protoporphyria Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Metabolic acidosis, IAG, accumulation of organic acids Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Acidosis Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of tryptophan metabolism Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Acquired monosaccharide malabsorption Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Volume excess, disturbed Starling forces Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Intermittent branched-chain ketonuria Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Homocystinemia Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Fumarylacetoacetase deficiency, chronic type Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Osmolality disturbance Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Vitamin K deficiency Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Hypercalcemia due to granulomatous disease Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Hypocalcemia Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Prolinuria Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Inborn error of pyruvate metabolism Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Metabolic acidosis, IAG, reduced excretion of inorganic acids Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Phosphoenolpyruvate carboxykinase (GTP) deficiency Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)

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Reference Sets

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

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