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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
Deficiency of methylaspartate mutase Finding site False Body system structure Inferred relationship Some
Deficiency of methylmalonyl-CoA mutase Finding site False Body system structure Inferred relationship Some
Deficiency of epimerase (disorder) Finding site False Body system structure Inferred relationship Some
Deficiency of racemase Finding site False Body system structure Inferred relationship Some
Deficiency of mutase Finding site False Body system structure Inferred relationship Some
Deficiency of ligase Finding site False Body system structure Inferred relationship Some
Deficiency of tyrosine-tRNA ligase Finding site False Body system structure Inferred relationship Some
Deficiency of tryptophan-transfer ribonucleic acid ligase (disorder) Finding site False Body system structure Inferred relationship Some
Deficiency of threonine-tRNA ligase Finding site False Body system structure Inferred relationship Some
Deficiency of leucine-tRNA ligase Finding site False Body system structure Inferred relationship Some
Deficiency of isoleucine-tRNA ligase Finding site False Body system structure Inferred relationship Some
Deficiency of lysine-tRNA ligase Finding site False Body system structure Inferred relationship Some
Deficiency of alanine-tRNA ligase Finding site False Body system structure Inferred relationship Some
Deficiency of valine-tRNA ligase Finding site False Body system structure Inferred relationship Some
Deficiency of methionine-transfer ribonucleic acid ligase (disorder) Finding site False Body system structure Inferred relationship Some
Deficiency of serine-tRNA ligase Finding site False Body system structure Inferred relationship Some
Deficiency of acetate-coenzyme A ligase (disorder) Finding site False Body system structure Inferred relationship Some
Deficiency of long-chain-fatty-acid-CoA ligase Finding site False Body system structure Inferred relationship Some
Deficiency of succinate-CoA ligase (GDP-forming) Finding site False Body system structure Inferred relationship Some
Deficiency of succinate-coenzyme A ligase (adenosine diphosphate-forming) (disorder) Finding site False Body system structure Inferred relationship Some
Deficiency of glutarate-CoA ligase Finding site False Body system structure Inferred relationship Some
Deficiency of cholate-CoA ligase Finding site False Body system structure Inferred relationship Some
Deficiency of glutamate-ammonia ligase Finding site False Body system structure Inferred relationship Some
Deficiency of glutamate-cysteine ligase Finding site False Body system structure Inferred relationship Some
Deficiency of glutathione synthase Finding site False Body system structure Inferred relationship Some
Deficiency of phosphopantothenate-cysteine ligase Finding site False Body system structure Inferred relationship Some
Deficiency of phosphoribosylaminoimidazole-succinocarboxamide synthase Finding site False Body system structure Inferred relationship Some
Deficiency of phosphoribosylformylglycinamidine cyclo-ligase Finding site False Body system structure Inferred relationship Some
Deficiency of formate-tetrahydrofolate ligase Finding site False Body system structure Inferred relationship Some
Deficiency of argininosuccinate synthase Finding site False Body system structure Inferred relationship Some
Deficiency of phosphoribosylamine-glycine ligase Finding site False Body system structure Inferred relationship Some
Deficiency of NAD^+^ synthase (glutamine-hydrolysing) Finding site False Body system structure Inferred relationship Some
Deficiency of GMP synthase (glutamine-hydrolysing) Finding site False Body system structure Inferred relationship Some
Deficiency of phosphoribosylformylglycinamidine synthase (disorder) Finding site False Body system structure Inferred relationship Some
Deficiency of pyruvate carboxylase Finding site False Body system structure Inferred relationship Some
Deficiency of acetyl-CoA carboxylase Finding site False Body system structure Inferred relationship Some
Deficiency of propionyl-CoA carboxylase Finding site False Body system structure Inferred relationship Some
methylcrotonyl-CoA-carboxylasemangel Finding site False Body system structure Inferred relationship Some
Deficiency of acid-ammonia ligase Finding site False Body system structure Inferred relationship Some
Deficiency of acid-aminoacid ligase Finding site False Body system structure Inferred relationship Some
Disorder of carotene Finding site False Body system structure Inferred relationship Some
Deficiency of vitamin D (disorder) Finding site False Body system structure Inferred relationship Some
Deficiency of vitamin D>2< (disorder) Finding site False Body system structure Inferred relationship Some
Deficiency of vitamin D>3< (disorder) Finding site False Body system structure Inferred relationship Some
Deficiency of vitamin K (disorder) Finding site False Body system structure Inferred relationship Some
Deficiency of vitamin K>1< (disorder) Finding site False Body system structure Inferred relationship Some
Deficiency of vitamin K>2< (disorder) Finding site False Body system structure Inferred relationship Some
Deficiency of vitamin B (disorder) Finding site False Body system structure Inferred relationship Some
Deficiency of vitamin B>12< (disorder) Finding site False Body system structure Inferred relationship Some
Deficiency of ascorbic acid Finding site False Body system structure Inferred relationship Some
biotinrelateret lidelse Finding site False Body system structure Inferred relationship Some
Deficiency of folic acid (disorder) Finding site False Body system structure Inferred relationship Some
Deficiency of pantothenic acid (disorder) Finding site False Body system structure Inferred relationship Some
Disorder of glucose metabolism Finding site False Body system structure Inferred relationship Some
Acute metabolic disorder Finding site False Body system structure Inferred relationship Some
Chronic metabolic disorder Finding site False Body system structure Inferred relationship Some
Medium-chain acyl-coenzyme A dehydrogenase deficiency Finding site False Body system structure Inferred relationship Some
Specific enzyme deficiency (disorder) Finding site False Body system structure Inferred relationship Some
Disorder of phenylalanine metabolism Finding site False Body system structure Inferred relationship Some
A rare inborn error of metabolism with characteristics of abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive. Finding site False Body system structure Inferred relationship Some
Elbow flexion test Procedure site False Body system structure Inferred relationship Some 1
An inherited disorder of leucine metabolism with characteristics of a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. Patients have a variable clinical phenotype with the vast majority of patients being asymptomatic and a small subgroup displaying symptoms of an organic aciduria, usually in association with environmental triggering factors. This disease is due to mutations in the MCCC1 (3q27.1) or MCCC2 (5q12-q13) genes. Mutations in these genes lead to reduced or absent 3-MCC activity, thereby allowing the toxic byproducts of leucine processing to build up and cause clinical symptoms. Inherited autosomal recessively. Finding site False Body system structure Inferred relationship Some
Pipecolic acidemia Finding site False Body system structure Inferred relationship Some
Rat acrodynia Finding site False Body system structure Inferred relationship Some
Hypercholesterolemia Finding site False Body system structure Inferred relationship Some
Metabolic alkalosis Finding site False Body system structure Inferred relationship Some
Propionyl-CoA carboxylase deficiency Finding site False Body system structure Inferred relationship Some
Multiple carboxylase deficiency - neonatal onset Finding site False Body system structure Inferred relationship Some
Holocarboxylase synthase deficiency Finding site False Body system structure Inferred relationship Some
Hyperkalemia Finding site False Body system structure Inferred relationship Some
Homocystinuria vitamin B12-responsive type III Finding site False Body system structure Inferred relationship Some
Functional defects of methionine synthase Finding site False Body system structure Inferred relationship Some
Homogentisate 1,2-dioxygenase deficiency Finding site False Body system structure Inferred relationship Some
Lipofuscinosis Finding site False Body system structure Inferred relationship Some
Hepatic tyrosine aminotransferase deficiency Finding site False Body system structure Inferred relationship Some
Glutaryl-CoA dehydrogenase deficiency Finding site False Body system structure Inferred relationship Some
Shoshin beriberi Finding site False Body system structure Inferred relationship Some
ægte cholinesterase-mangel Finding site False Body system structure Inferred relationship Some
cholinesterase I-mangel Finding site False Body system structure Inferred relationship Some
Deficiency of acetylcholinesterase Finding site False Body system structure Inferred relationship Some
butyrylcholinesterasemangel Finding site False Body system structure Inferred relationship Some
benzoylcholinesterasemangel Finding site False Body system structure Inferred relationship Some
cholinesterasemangel Finding site False Body system structure Inferred relationship Some
Deficiency of butyrylcholinesterase (disorder) Finding site False Body system structure Inferred relationship Some
Deficiency of choline esterase II (unspecific) Finding site False Body system structure Inferred relationship Some
Deficiency of pectin methylesterase Finding site False Body system structure Inferred relationship Some
Deficiency of pectinesterase Finding site False Body system structure Inferred relationship Some
Deficiency of pectin methoxylase Finding site False Body system structure Inferred relationship Some
Deficiency of lactonase Finding site False Body system structure Inferred relationship Some
Deficiency of aldonolactonase Finding site False Body system structure Inferred relationship Some
Deficiency of gluconolactonase Finding site False Body system structure Inferred relationship Some
Deficiency of acetyl-CoA deacylase Finding site False Body system structure Inferred relationship Some
Deficiency of acetyl-CoA acylase Finding site False Body system structure Inferred relationship Some
Hyperbilirubinemia Finding site False Body system structure Inferred relationship Some
Deficiency of acetyl-CoA hydrolase Finding site False Body system structure Inferred relationship Some
Deficiency of long-chain fatty-acyl-CoA hydrolase Finding site False Body system structure Inferred relationship Some
Deficiency of palmitoyl-CoA hydrolase Finding site False Body system structure Inferred relationship Some
Deficiency of phosphomonoesterase Finding site False Body system structure Inferred relationship Some
Deficiency of glycerophosphatase Finding site False Body system structure Inferred relationship Some
Deficiency of alkaline phosphomonoesterase (disorder) Finding site False Body system structure Inferred relationship Some
Deficiency of alkaline phosphatase Finding site False Body system structure Inferred relationship Some

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