SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Metabolic disease  75934005

Hereditary metabolic disease  1821000146108

Inborn error of metabolism   86095007

SNOMED CT code


SNOMED code86095007
nameInborn error of metabolism
statusactive
date introduced2002-01-31
fully specified name(s)Inborn error of metabolism (disorder)
synonyms
  • IBEM - Inborn error of metabolism
  • IEM - Inborn error of metabolism
  • Inborn error of metabolism
attributes - group1
OccurrenceCongenital   255399007
parents
children
  • 17 alpha-Hydroxyprogesterone aldolase deficiency   49013001
  • 3 beta-Hydroxysteroid dehydrogenase deficiency   54470008
  • 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency   57514000
  • 5-Oxoprolinase deficiency   26132002
  • Acetyl-CoA carboxylase deficiency   4920001
  • Acetyl-CoA: acyltransferase deficiency   32053001  removed: 2003-07-31
  • Albinism   15890002
  • Amino acid/carbohydrate metabolic disorder   286920009
  • Aminomethyltransferase deficiency   67845009
  • Argininosuccinate lyase deficiency   41013004
  • Autosomal recessive extra-oral halitosis   1269235004
  • Brachytelephalangic chondrodysplasia punctata   778067002
  • CHILD syndrome   17608003
  • Cholesterol monooxygenase (side-chain cleaving) deficiency   44231009
  • CK syndrome   773329005
  • Congenital muscular dystrophy without intellectual disability   783175003
  • Congenital nonspherocytic hemolytic anemia due to inborn error of metabolism   363041004
  • Corticosterone 18-monooxygenase deficiency   47757001
  • Cystathionine beta-synthase deficiency   24308003
  • Defect in post-translational modification of lysosomal enzymes   190948002
  • Deficiency of galactose mutarotase   1187616008
  • Deficiency of histidine ammonia-lyase   124628005
  • Deficiency of hydroxymethylglutaryl-CoA lyase   124611007
  • Deficiency of methylmalonyl-CoA mutase   124680001
  • Deficiency of proline dipeptidase   361010007  removed: 2023-12-01
  • Deficiency of Xaa-Pro dipeptidase   360994007
  • Dihydropteridine reductase deficiency   58256000
  • Disorder of creatine synthesis   297226004
  • Disorder of fatty acid metabolism   39929009
  • Disorder of glycoprotein metabolism   238045003
  • Disorder of glycosaminoglycan metabolism   238043005
  • Disorder of peroxisomal function   238059005
  • Disorder of porphyrin and heme metabolism   238052001  removed: 2002-07-31
  • Disorder of pyruvate metabolism and mitochondrial respiratory chain   237981000
  • Dyshormonogenic goiter   190304001
  • Ehlers-Danlos syndrome, procollagen proteinase deficient   55711009
  • Enterokinase deficiency   190952002  removed: 2022-11-30
  • Erythropoietic protoporphyria   51022005
  • Essential benign pentosuria   55824003  removed: 2013-07-31
  • Essential pentosuria   190764000
  • Ethanolaminosis   64235006
  • Familial renal iminoglycinuria   75652008
  • Fructose-biphosphatase deficiency   28183005
  • Gamma-glutamyl transpeptidase deficiency   78586005
  • Glucose-6-phosphate dehydrogenase deficiency anemia   62403005
  • Glutamate-cysteine ligase deficiency   36799008
  • Glycine dehydrogenase (decarboxylating) deficiency   63329001
  • Heme oxygenase-1 deficiency   1230003009
  • Hepatic methionine adenosyltransferase deficiency   57835009
  • Hereditary butyrylcholinesterase deficiency   1296959007
  • Hereditary combined deficiency of vitamin K-dependent clotting factors   724356003
  • Hereditary hypercarotenemia and vitamin A deficiency   726079008
  • HNSHA due to hexokinase deficiency   42484009
  • HNSHA due to NADH diaphorase deficiency   47526003
  • Hyperammonemia, type III   57119000
  • Hyperinsulinism and hyperammonemia syndrome   718106009
  • Hypertyrosinemia, Richner-Hanhart type   4887000
  • Hypervalinemia   47719001
  • Hypophosphatasia   190859005
  • Inborn error of amino acid metabolism   42930003
  • Inborn error of glutathione metabolism   72262000
  • Inborn error of lipoprotein metabolism   43465001
  • Inherited disorder of bilirubin metabolism   5655007
  • Inherited disorder of folate metabolism   4702003
  • Inherited disorder of thyroid metabolism   36985004
  • Inherited metabolic disorder of nervous system   128190004
  • Intestinal enteropeptidase deficiency   56661000
  • Isovaleryl-CoA dehydrogenase deficiency   87827003
  • Kerasin thesaurismosis   180485001
  • Ketoacidosis due to monocarboxylate transporter-1 deficiency   1216941002
  • Lipoyl transferase 1 deficiency   782745008
  • Lipoyl transferase 2 deficiency   1269231008
  • Maple syrup urine disease   27718001
  • Methylcrotonyl-CoA carboxylase deficiency   13144005
  • Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency   765137006
  • Moderate steroid 21-hydroxylase deficiency   60045007
  • Multiple carboxylase deficiency   1172966001
  • Multiple carboxylase deficiency   62151000119109  removed: 2022-03-01
  • Ornithine carbamoyltransferase deficiency   80908008
  • Other amino acid/carbohydrate metabolic disorder   286921008  removed: 2010-01-31
  • Pancreatic colipase deficiency   69478001
  • Phenylketonuria   190687004
  • Porphobilinogen synthase deficiency   64081000
  • Premature aging syndrome   399959003
  • Primary hyperoxaluria   17901006
  • Proline dehydrogenase deficiency   61071003
  • Propionic acidemia   69080001
  • Pyridoxine dependency syndrome   28602001  removed: 2018-01-31
  • Sarcosine dehydrogenase deficiency   64852002
  • Severe primary trimethylaminuria   1237339005
  • Severe steroid 21-hydroxylase deficiency   15991002
  • Short stature, developmental delay, congenital heart defect syndrome   1237512003
  • Storage disease   34420000
  • Succinate-semialdehyde dehydrogenase deficiency   49748000
  • Sulfite oxidase deficiency syndrome   40873003
  • Synthetic defect of bile acids   235915002
  • Testosterone 17-beta-dehydrogenase deficiency   50658006
  • Trehalase deficiency   84193000
  • Trypsinogen deficiency   190953007
  • Unclassified metabolic disorder   275438000  removed: 2019-01-31
  • Urocanate hydratase deficiency   60952007
  • X-linked ichthyosis with steryl-sulfatase deficiency   72523005
  • Xp21 deletion syndrome   1295529002
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Hereditary metabolic disease   1821000146108
          Inborn error of metabolism   86095007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007

ancestors
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