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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
Deficiency of alanine-oxo-acid aminotransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of ornithine-oxo-acid aminotransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of asparagine-oxo-acid aminotransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of glutamine-pyruvate aminotransferase (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of glutamine-fructose-6-phosphate aminotransferase (isomerising) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of oximinotransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of glucokinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of ketohexokinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of fructokinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of rhamnulokinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
A rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy and jaundice. Patients generally have elevated plasma galactose and increased urinary excretion of galactitol. They develop cataracts during the first weeks or months of life as a result of accumulation of galactitol in the lens. Patients are otherwise healthy. Caused by mutations in the GALK1 gene (17q24) coding for the galactokinase enzyme. The disorder is inherited in an autosomal recessive manner. Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of mannokinase (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of glucosamine kinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of phosphoglucokinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of 6-phosphofructokinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of gluconokinase (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of dehydrogluconokinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of sedoheptulokinase (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of ribokinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of ribulokinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of xylulokinase (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of phosphoribokinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of adenosine kinase (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of ribosylnicotinamide kinase (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of NAD^+^ kinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of dephospho-CoA kinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of adenylylsulphate kinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of riboflavin kinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of erythritol kinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of triokinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of glycerol kinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of glycerate kinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of choline kinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of pantetheine kinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of pyridoxal kinase (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of mevalonate kinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of protein kinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of phosphorylase kinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of homoserine kinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of glucose-1-phosphate phosphodismutase (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of acetate kinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of carbamate kinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of phosphoglycerate kinase (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of aspartate kinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of guanidinoacetate kinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of creatine kinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of phosphomevalonate kinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of nucleoside-phosphate kinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of nucleoside-diphosphate kinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of ribose-phosphate pyrophosphokinase (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of thiamin pyrophosphokinase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of nicotinamide-nucleotide adenylyltransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of FMN adenylyltransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of pantetheine-phosphate adenylyltransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of sulfate adenylyltransferase (ADP) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of DNA-directed RNA polymerase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of DNA-directed DNA polymerase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of polyribonucleotide nucleotidyltransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of UTP-glucose-1-phosphate uridylyltransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of UTP-hexose-1-phosphate uridylyltransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of ethanolamine-phosphate cytidylyltransferase (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of choline-phosphate cytidylyltransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of DNA nucleotidylexotransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of ethanolaminephosphotransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of cholinephosphotransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of thiosulphate sulphurtransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of 3-mercaptopyruvate sulphurtransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of aryl sulfotransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of alcohol sulphotransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of oxalate CoA-transferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of malonate CoA-transferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of 3-oxoacid coenzyme A-transferase (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of 3-oxoadipate CoA-transferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of butyrate-acetoacetate CoA-transferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of methyltransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of transhydroxymethylase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of transformylase (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of transformiminase (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of transcarboxylase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of transcarbamoylase (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of transacylase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of aminoacyltransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of glycosyltransferase (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of hexosyltransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of pentosyltransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of amidinotransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of aminotransferase (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of phosphotransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of pyrophosphotransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of sulphurtransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of sulfotransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of coenzyme-A transferase (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of nucleotidyltransferase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of hydrolase (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of carboxylesterase (disorder) Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of arylesterase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of triacylglycerol lipase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of phospholipase A>2< Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of lysophospholipase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of acetylesterase Finding site False Body system structure Inferred relationship Existential restriction modifier (core metadata concept)

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