FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.3  |  FHIR Version n/a  User: [n/a]

78548001: Enzymopathy (disorder)


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
130340018 Enzymopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
130343016 Enzyme disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
694481000077119 enzymopathie (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
72011000077112 enzymopathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
819500019 Enzymopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


911 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Enzymopathy est un(e) (attribut) trouble métabolique true Inferred relationship Some
Enzymopathy localisation d'une constatation (attribut) structure d'un système corporel false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Purine-nucleoside phosphorylase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Urocanate hydratase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Proline dehydrogenase deficiency (disorder) est un(e) (attribut) True Enzymopathy Inferred relationship Some
Homocarnosinase deficiency (disorder) est un(e) (attribut) True Enzymopathy Inferred relationship Some
Muscle phosphoglycerate mutase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Congenital hyperammonemia, type I est un(e) (attribut) False Enzymopathy Inferred relationship Some
Glycine dehydrogenase (decarboxylating) deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Porphobilinogen synthase deficiency est un(e) (attribut) False Enzymopathy Inferred relationship Some
Ethanolaminosis est un(e) (attribut) True Enzymopathy Inferred relationship Some
Dihydropyrimidinase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Sarcosine dehydrogenase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Carnitine acetyltransferase deficiency (disorder) est un(e) (attribut) False Enzymopathy Inferred relationship Some
Anemia due to enzyme deficiency Due to True Enzymopathy Inferred relationship Some 5
HNSHA due to aldolase A deficiency Due to False Enzymopathy Inferred relationship Some 5
Cytochrome-c oxidase deficiency est un(e) (attribut) False Enzymopathy Inferred relationship Some
Aminomethyltransferase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
manifestation clinique d'un déficit enzymatique Due to True Enzymopathy Inferred relationship Some 1
Drug-induced enzyme deficiency anemia Due to True Enzymopathy Inferred relationship Some 6
Glucose-6-phosphate dehydrogenase deficiency class I variant anemia (disorder) Due to False Enzymopathy Inferred relationship Some
Glucose-6-phosphate dehydrogenase deficiency class III variant anemia (disorder) Due to False Enzymopathy Inferred relationship Some
Anaemia due to pentose phosphate pathway defect Due to True Enzymopathy Inferred relationship Some 5
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder) Due to True Enzymopathy Inferred relationship Some 5
Histidine ammonia-lyase deficiency est un(e) (attribut) False Enzymopathy Inferred relationship Some
Glucose-6-phosphate dehydrogenase deficiency class II variant anemia (disorder) Due to False Enzymopathy Inferred relationship Some
HNSHA due to phosphofructokinase deficiency Due to True Enzymopathy Inferred relationship Some 5
Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency (disorder) Due to True Enzymopathy Inferred relationship Some 6
Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency (disorder) Due to True Enzymopathy Inferred relationship Some 6
Glucose-6-phosphate dehydrogenase deficiency anemia Due to False Enzymopathy Inferred relationship Some
HNSHA due to NADH-methemoglobin reductase deficiency Due to False Enzymopathy Inferred relationship Some
Cystathionine gamma-lyase deficiency est un(e) (attribut) False Enzymopathy Inferred relationship Some
HNSHA due to decreased adenosine deaminase activity Due to True Enzymopathy Inferred relationship Some 5
G-6-PD class V variant anemia Due to False Enzymopathy Inferred relationship Some
G-6-PD class IV variant anemia Due to False Enzymopathy Inferred relationship Some
G-6-PD variant enzyme deficiency anemia Due to False Enzymopathy Inferred relationship Some
Pancreatic colipase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Proline dipeptidase deficiency est un(e) (attribut) False Enzymopathy Inferred relationship Some
Congenital pancreatic enterokinase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Hydroxymethylglutaryl-CoA lyase deficiency est un(e) (attribut) False Enzymopathy Inferred relationship Some
Kynureninase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder) est un(e) (attribut) True Enzymopathy Inferred relationship Some
Classical phenylketonuria est un(e) (attribut) False Enzymopathy Inferred relationship Some
Gout secondary to enzyme defect associé à (attribut) True Enzymopathy Inferred relationship Some 2
Dihydropyrimidine dehydrogenase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Neonatal jaundice due to deficiency of enzyme system for bilirubin conjugation Due to True Enzymopathy Inferred relationship Some 1
Immunodeficiency with multicarboxylase deficiency (disorder) associé à (attribut) False Enzymopathy Inferred relationship Some 1
Gamma-glutamyl transpeptidase deficiency (disorder) est un(e) (attribut) True Enzymopathy Inferred relationship Some
Ornithine carbamoyltransferase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Pancreatic alpha-amylase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Acyl-CoA dehydrogenase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Trehalase deficiency est un(e) (attribut) False Enzymopathy Inferred relationship Some
Pyruvate carboxylase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Isovaleryl-CoA dehydrogenase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Biotinidase deficiency est un(e) (attribut) False Enzymopathy Inferred relationship Some
Tetrahydrofolate methyltransferase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Carnitine palmitoyltransferase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Muscle AMP deaminase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Disorder due to cytochrome p450 enzyme variant (disorder) est un(e) (attribut) False Enzymopathy Inferred relationship Some
Disorder due to N-acetyltransferase enzyme variant (disorder) est un(e) (attribut) True Enzymopathy Inferred relationship Some
déficit en citrine est un(e) (attribut) False Enzymopathy Inferred relationship Some
UGT1A1*28 polymorphism (disorder) est un(e) (attribut) False Enzymopathy Inferred relationship Some
Other deficiencies of circulating enzymes est un(e) (attribut) False Enzymopathy Inferred relationship Some
Essential pentosuria est un(e) (attribut) True Enzymopathy Inferred relationship Some
Hyperandrogenism due to non-classic type of 21-hydroxylase deficiency (disorder) est un(e) (attribut) True Enzymopathy Inferred relationship Some
Circulating enzyme deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Acatalasia est un(e) (attribut) False Enzymopathy Inferred relationship Some
syndrome d'excès d'aromatase est un(e) (attribut) True Enzymopathy Inferred relationship Some
Anemia due to enzyme deficiency est un(e) (attribut) False Enzymopathy Inferred relationship Some
Combined pancreatic lipase and colipase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some
Hyper-beta-carnosinaemia est un(e) (attribut) True Enzymopathy Inferred relationship Some
Ferrochelatase deficiency est un(e) (attribut) True Enzymopathy Inferred relationship Some

Start Page 2 of 2


This concept is not in any reference sets

Back to Start