ValueSet-2.16.840.1.113883.3.3616.200.110.102.3082

Sourceus.nlm.vsac#0.11.0:null (v4.0.1)
resourceTypeValueSet
id2.16.840.1.113883.3.3616.200.110.102.3082
canonicalhttp://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113883.3.3616.200.110.102.3082
version20220714
statusactive
publisherClinical Architecture
nameCOVID19ICD10CMValueSetForInbornErrorsOfMetabolism
titleCOVID19 ICD10CM Value Set for Inborn Errors of Metabolism
date2023-06-21T18:16:37-04:00
experimentalfalse
Usages

This value set contains 227 concepts

Code System Display
   E70 http://hl7.org/fhir/sid/icd-10-cm Disorders of aromatic amino-acid metabolism
   E70.0 http://hl7.org/fhir/sid/icd-10-cm Classical phenylketonuria
   E70.1 http://hl7.org/fhir/sid/icd-10-cm Other hyperphenylalaninemias
   E70.2 http://hl7.org/fhir/sid/icd-10-cm Disorders of tyrosine metabolism
   E70.20 http://hl7.org/fhir/sid/icd-10-cm Disorder of tyrosine metabolism, unspecified
   E70.21 http://hl7.org/fhir/sid/icd-10-cm Tyrosinemia
   E70.29 http://hl7.org/fhir/sid/icd-10-cm Other disorders of tyrosine metabolism
   E70.3 http://hl7.org/fhir/sid/icd-10-cm Albinism
   E70.30 http://hl7.org/fhir/sid/icd-10-cm Albinism, unspecified
   E70.31 http://hl7.org/fhir/sid/icd-10-cm Ocular albinism
   E70.310 http://hl7.org/fhir/sid/icd-10-cm X-linked ocular albinism
   E70.311 http://hl7.org/fhir/sid/icd-10-cm Autosomal recessive ocular albinism
   E70.318 http://hl7.org/fhir/sid/icd-10-cm Other ocular albinism
   E70.319 http://hl7.org/fhir/sid/icd-10-cm Ocular albinism, unspecified
   E70.32 http://hl7.org/fhir/sid/icd-10-cm Oculocutaneous albinism
   E70.320 http://hl7.org/fhir/sid/icd-10-cm Tyrosinase negative oculocutaneous albinism
   E70.321 http://hl7.org/fhir/sid/icd-10-cm Tyrosinase positive oculocutaneous albinism
   E70.328 http://hl7.org/fhir/sid/icd-10-cm Other oculocutaneous albinism
   E70.329 http://hl7.org/fhir/sid/icd-10-cm Oculocutaneous albinism, unspecified
   E70.33 http://hl7.org/fhir/sid/icd-10-cm Albinism with hematologic abnormality
   E70.330 http://hl7.org/fhir/sid/icd-10-cm Chediak-Higashi syndrome
   E70.331 http://hl7.org/fhir/sid/icd-10-cm Hermansky-Pudlak syndrome
   E70.338 http://hl7.org/fhir/sid/icd-10-cm Other albinism with hematologic abnormality
   E70.339 http://hl7.org/fhir/sid/icd-10-cm Albinism with hematologic abnormality, unspecified
   E70.39 http://hl7.org/fhir/sid/icd-10-cm Other specified albinism
   E70.4 http://hl7.org/fhir/sid/icd-10-cm Disorders of histidine metabolism
   E70.40 http://hl7.org/fhir/sid/icd-10-cm Disorders of histidine metabolism, unspecified
   E70.41 http://hl7.org/fhir/sid/icd-10-cm Histidinemia
   E70.49 http://hl7.org/fhir/sid/icd-10-cm Other disorders of histidine metabolism
   E70.5 http://hl7.org/fhir/sid/icd-10-cm Disorders of tryptophan metabolism
   E70.8 http://hl7.org/fhir/sid/icd-10-cm Other disorders of aromatic amino-acid metabolism
   E70.81 http://hl7.org/fhir/sid/icd-10-cm Aromatic L-amino acid decarboxylase deficiency
   E70.89 http://hl7.org/fhir/sid/icd-10-cm Other disorders of aromatic amino-acid metabolism
   E70.9 http://hl7.org/fhir/sid/icd-10-cm Disorder of aromatic amino-acid metabolism, unspecified
   E71 http://hl7.org/fhir/sid/icd-10-cm Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism
   E71.0 http://hl7.org/fhir/sid/icd-10-cm Maple-syrup-urine disease
   E71.1 http://hl7.org/fhir/sid/icd-10-cm Other disorders of branched-chain amino-acid metabolism
   E71.11 http://hl7.org/fhir/sid/icd-10-cm Branched-chain organic acidurias
   E71.110 http://hl7.org/fhir/sid/icd-10-cm Isovaleric acidemia
   E71.111 http://hl7.org/fhir/sid/icd-10-cm 3-methylglutaconic aciduria
   E71.118 http://hl7.org/fhir/sid/icd-10-cm Other branched-chain organic acidurias
   E71.12 http://hl7.org/fhir/sid/icd-10-cm Disorders of propionate metabolism
   E71.120 http://hl7.org/fhir/sid/icd-10-cm Methylmalonic acidemia
   E71.121 http://hl7.org/fhir/sid/icd-10-cm Propionic acidemia
   E71.128 http://hl7.org/fhir/sid/icd-10-cm Other disorders of propionate metabolism
   E71.19 http://hl7.org/fhir/sid/icd-10-cm Other disorders of branched-chain amino-acid metabolism
   E71.2 http://hl7.org/fhir/sid/icd-10-cm Disorder of branched-chain amino-acid metabolism, unspecified
   E71.3 http://hl7.org/fhir/sid/icd-10-cm Disorders of fatty-acid metabolism
   E71.30 http://hl7.org/fhir/sid/icd-10-cm Disorder of fatty-acid metabolism, unspecified
   E71.31 http://hl7.org/fhir/sid/icd-10-cm Disorders of fatty-acid oxidation
   E71.310 http://hl7.org/fhir/sid/icd-10-cm Long chain/very long chain acyl CoA dehydrogenase deficiency
   E71.311 http://hl7.org/fhir/sid/icd-10-cm Medium chain acyl CoA dehydrogenase deficiency
   E71.312 http://hl7.org/fhir/sid/icd-10-cm Short chain acyl CoA dehydrogenase deficiency
   E71.313 http://hl7.org/fhir/sid/icd-10-cm Glutaric aciduria type II
   E71.314 http://hl7.org/fhir/sid/icd-10-cm Muscle carnitine palmitoyltransferase deficiency
   E71.318 http://hl7.org/fhir/sid/icd-10-cm Other disorders of fatty-acid oxidation
   E71.32 http://hl7.org/fhir/sid/icd-10-cm Disorders of ketone metabolism
   E71.39 http://hl7.org/fhir/sid/icd-10-cm Other disorders of fatty-acid metabolism
   E71.4 http://hl7.org/fhir/sid/icd-10-cm Disorders of carnitine metabolism
   E71.40 http://hl7.org/fhir/sid/icd-10-cm Disorder of carnitine metabolism, unspecified
   E71.41 http://hl7.org/fhir/sid/icd-10-cm Primary carnitine deficiency
   E71.42 http://hl7.org/fhir/sid/icd-10-cm Carnitine deficiency due to inborn errors of metabolism
   E71.43 http://hl7.org/fhir/sid/icd-10-cm Iatrogenic carnitine deficiency
   E71.44 http://hl7.org/fhir/sid/icd-10-cm Other secondary carnitine deficiency
   E71.440 http://hl7.org/fhir/sid/icd-10-cm Ruvalcaba-Myhre-Smith syndrome
   E71.448 http://hl7.org/fhir/sid/icd-10-cm Other secondary carnitine deficiency
   E71.5 http://hl7.org/fhir/sid/icd-10-cm Peroxisomal disorders
   E71.50 http://hl7.org/fhir/sid/icd-10-cm Peroxisomal disorder, unspecified
   E71.51 http://hl7.org/fhir/sid/icd-10-cm Disorders of peroxisome biogenesis
   E71.510 http://hl7.org/fhir/sid/icd-10-cm Zellweger syndrome
   E71.511 http://hl7.org/fhir/sid/icd-10-cm Neonatal adrenoleukodystrophy
   E71.518 http://hl7.org/fhir/sid/icd-10-cm Other disorders of peroxisome biogenesis
   E71.52 http://hl7.org/fhir/sid/icd-10-cm X-linked adrenoleukodystrophy
   E71.520 http://hl7.org/fhir/sid/icd-10-cm Childhood cerebral X-linked adrenoleukodystrophy
   E71.521 http://hl7.org/fhir/sid/icd-10-cm Adolescent X-linked adrenoleukodystrophy
   E71.522 http://hl7.org/fhir/sid/icd-10-cm Adrenomyeloneuropathy
   E71.528 http://hl7.org/fhir/sid/icd-10-cm Other X-linked adrenoleukodystrophy
   E71.529 http://hl7.org/fhir/sid/icd-10-cm X-linked adrenoleukodystrophy, unspecified type
   E71.53 http://hl7.org/fhir/sid/icd-10-cm Other group 2 peroxisomal disorders
   E71.54 http://hl7.org/fhir/sid/icd-10-cm Other peroxisomal disorders
   E71.540 http://hl7.org/fhir/sid/icd-10-cm Rhizomelic chondrodysplasia punctata
   E71.541 http://hl7.org/fhir/sid/icd-10-cm Zellweger-like syndrome
   E71.542 http://hl7.org/fhir/sid/icd-10-cm Other group 3 peroxisomal disorders
   E71.548 http://hl7.org/fhir/sid/icd-10-cm Other peroxisomal disorders
   E72 http://hl7.org/fhir/sid/icd-10-cm Other disorders of amino-acid metabolism
   E72.0 http://hl7.org/fhir/sid/icd-10-cm Disorders of amino-acid transport
   E72.00 http://hl7.org/fhir/sid/icd-10-cm Disorders of amino-acid transport, unspecified
   E72.01 http://hl7.org/fhir/sid/icd-10-cm Cystinuria
   E72.02 http://hl7.org/fhir/sid/icd-10-cm Hartnup's disease
   E72.03 http://hl7.org/fhir/sid/icd-10-cm Lowe's syndrome
   E72.04 http://hl7.org/fhir/sid/icd-10-cm Cystinosis
   E72.09 http://hl7.org/fhir/sid/icd-10-cm Other disorders of amino-acid transport
   E72.1 http://hl7.org/fhir/sid/icd-10-cm Disorders of sulfur-bearing amino-acid metabolism
   E72.10 http://hl7.org/fhir/sid/icd-10-cm Disorders of sulfur-bearing amino-acid metabolism, unspecified
   E72.11 http://hl7.org/fhir/sid/icd-10-cm Homocystinuria
   E72.12 http://hl7.org/fhir/sid/icd-10-cm Methylenetetrahydrofolate reductase deficiency
   E72.19 http://hl7.org/fhir/sid/icd-10-cm Other disorders of sulfur-bearing amino-acid metabolism
   E72.2 http://hl7.org/fhir/sid/icd-10-cm Disorders of urea cycle metabolism
   E72.20 http://hl7.org/fhir/sid/icd-10-cm Disorder of urea cycle metabolism, unspecified
   E72.21 http://hl7.org/fhir/sid/icd-10-cm Argininemia
   E72.22 http://hl7.org/fhir/sid/icd-10-cm Arginosuccinic aciduria
   E72.23 http://hl7.org/fhir/sid/icd-10-cm Citrullinemia
   E72.29 http://hl7.org/fhir/sid/icd-10-cm Other disorders of urea cycle metabolism
   E72.3 http://hl7.org/fhir/sid/icd-10-cm Disorders of lysine and hydroxylysine metabolism
   E72.4 http://hl7.org/fhir/sid/icd-10-cm Disorders of ornithine metabolism
   E72.5 http://hl7.org/fhir/sid/icd-10-cm Disorders of glycine metabolism
   E72.50 http://hl7.org/fhir/sid/icd-10-cm Disorder of glycine metabolism, unspecified
   E72.51 http://hl7.org/fhir/sid/icd-10-cm Non-ketotic hyperglycinemia
   E72.52 http://hl7.org/fhir/sid/icd-10-cm Trimethylaminuria
   E72.53 http://hl7.org/fhir/sid/icd-10-cm Primary hyperoxaluria
   E72.59 http://hl7.org/fhir/sid/icd-10-cm Other disorders of glycine metabolism
   E72.8 http://hl7.org/fhir/sid/icd-10-cm Other specified disorders of amino-acid metabolism
   E72.81 http://hl7.org/fhir/sid/icd-10-cm Disorders of gamma aminobutyric acid metabolism
   E72.89 http://hl7.org/fhir/sid/icd-10-cm Other specified disorders of amino-acid metabolism
   E72.9 http://hl7.org/fhir/sid/icd-10-cm Disorder of amino-acid metabolism, unspecified
   E74 http://hl7.org/fhir/sid/icd-10-cm Other disorders of carbohydrate metabolism
   E74.0 http://hl7.org/fhir/sid/icd-10-cm Glycogen storage disease
   E74.00 http://hl7.org/fhir/sid/icd-10-cm Glycogen storage disease, unspecified
   E74.01 http://hl7.org/fhir/sid/icd-10-cm von Gierke disease
   E74.02 http://hl7.org/fhir/sid/icd-10-cm Pompe disease
   E74.03 http://hl7.org/fhir/sid/icd-10-cm Cori disease
   E74.04 http://hl7.org/fhir/sid/icd-10-cm McArdle disease
   E74.09 http://hl7.org/fhir/sid/icd-10-cm Other glycogen storage disease
   E74.1 http://hl7.org/fhir/sid/icd-10-cm Disorders of fructose metabolism
   E74.10 http://hl7.org/fhir/sid/icd-10-cm Disorder of fructose metabolism, unspecified
   E74.11 http://hl7.org/fhir/sid/icd-10-cm Essential fructosuria
   E74.12 http://hl7.org/fhir/sid/icd-10-cm Hereditary fructose intolerance
   E74.19 http://hl7.org/fhir/sid/icd-10-cm Other disorders of fructose metabolism
   E74.2 http://hl7.org/fhir/sid/icd-10-cm Disorders of galactose metabolism
   E74.20 http://hl7.org/fhir/sid/icd-10-cm Disorders of galactose metabolism, unspecified
   E74.21 http://hl7.org/fhir/sid/icd-10-cm Galactosemia
   E74.29 http://hl7.org/fhir/sid/icd-10-cm Other disorders of galactose metabolism
   E74.3 http://hl7.org/fhir/sid/icd-10-cm Other disorders of intestinal carbohydrate absorption
   E74.31 http://hl7.org/fhir/sid/icd-10-cm Sucrase-isomaltase deficiency
   E74.39 http://hl7.org/fhir/sid/icd-10-cm Other disorders of intestinal carbohydrate absorption
   E74.4 http://hl7.org/fhir/sid/icd-10-cm Disorders of pyruvate metabolism and gluconeogenesis
   E74.8 http://hl7.org/fhir/sid/icd-10-cm Other specified disorders of carbohydrate metabolism
   E74.81 http://hl7.org/fhir/sid/icd-10-cm Disorders of glucose transport, not elsewhere classified
   E74.810 http://hl7.org/fhir/sid/icd-10-cm Glucose transporter protein type 1 deficiency
   E74.818 http://hl7.org/fhir/sid/icd-10-cm Other disorders of glucose transport
   E74.819 http://hl7.org/fhir/sid/icd-10-cm Disorders of glucose transport, unspecified
   E74.89 http://hl7.org/fhir/sid/icd-10-cm Other specified disorders of carbohydrate metabolism
   E74.9 http://hl7.org/fhir/sid/icd-10-cm Disorder of carbohydrate metabolism, unspecified
   E75 http://hl7.org/fhir/sid/icd-10-cm Disorders of sphingolipid metabolism and other lipid storage disorders
   E75.0 http://hl7.org/fhir/sid/icd-10-cm GM2 gangliosidosis
   E75.00 http://hl7.org/fhir/sid/icd-10-cm GM2 gangliosidosis, unspecified
   E75.01 http://hl7.org/fhir/sid/icd-10-cm Sandhoff disease
   E75.02 http://hl7.org/fhir/sid/icd-10-cm Tay-Sachs disease
   E75.09 http://hl7.org/fhir/sid/icd-10-cm Other GM2 gangliosidosis
   E75.1 http://hl7.org/fhir/sid/icd-10-cm Other and unspecified gangliosidosis
   E75.10 http://hl7.org/fhir/sid/icd-10-cm Unspecified gangliosidosis
   E75.11 http://hl7.org/fhir/sid/icd-10-cm Mucolipidosis IV
   E75.19 http://hl7.org/fhir/sid/icd-10-cm Other gangliosidosis
   E75.2 http://hl7.org/fhir/sid/icd-10-cm Other sphingolipidosis
   E75.21 http://hl7.org/fhir/sid/icd-10-cm Fabry (-Anderson) disease
   E75.22 http://hl7.org/fhir/sid/icd-10-cm Gaucher disease
   E75.23 http://hl7.org/fhir/sid/icd-10-cm Krabbe disease
   E75.24 http://hl7.org/fhir/sid/icd-10-cm Niemann-Pick disease
   E75.240 http://hl7.org/fhir/sid/icd-10-cm Niemann-Pick disease type A
   E75.241 http://hl7.org/fhir/sid/icd-10-cm Niemann-Pick disease type B
   E75.242 http://hl7.org/fhir/sid/icd-10-cm Niemann-Pick disease type C
   E75.243 http://hl7.org/fhir/sid/icd-10-cm Niemann-Pick disease type D
   E75.244 http://hl7.org/fhir/sid/icd-10-cm Niemann-Pick disease type A/B
   E75.248 http://hl7.org/fhir/sid/icd-10-cm Other Niemann-Pick disease
   E75.249 http://hl7.org/fhir/sid/icd-10-cm Niemann-Pick disease, unspecified
   E75.25 http://hl7.org/fhir/sid/icd-10-cm Metachromatic leukodystrophy
   E75.26 http://hl7.org/fhir/sid/icd-10-cm Sulfatase deficiency
   E75.29 http://hl7.org/fhir/sid/icd-10-cm Other sphingolipidosis
   E75.3 http://hl7.org/fhir/sid/icd-10-cm Sphingolipidosis, unspecified
   E75.4 http://hl7.org/fhir/sid/icd-10-cm Neuronal ceroid lipofuscinosis
   E75.5 http://hl7.org/fhir/sid/icd-10-cm Other lipid storage disorders
   E75.6 http://hl7.org/fhir/sid/icd-10-cm Lipid storage disorder, unspecified
   E76 http://hl7.org/fhir/sid/icd-10-cm Disorders of glycosaminoglycan metabolism
   E76.0 http://hl7.org/fhir/sid/icd-10-cm Mucopolysaccharidosis, type I
   E76.01 http://hl7.org/fhir/sid/icd-10-cm Hurler's syndrome
   E76.02 http://hl7.org/fhir/sid/icd-10-cm Hurler-Scheie syndrome
   E76.03 http://hl7.org/fhir/sid/icd-10-cm Scheie's syndrome
   E76.1 http://hl7.org/fhir/sid/icd-10-cm Mucopolysaccharidosis, type II
   E76.2 http://hl7.org/fhir/sid/icd-10-cm Other mucopolysaccharidoses
   E76.21 http://hl7.org/fhir/sid/icd-10-cm Morquio mucopolysaccharidoses
   E76.210 http://hl7.org/fhir/sid/icd-10-cm Morquio A mucopolysaccharidoses
   E76.211 http://hl7.org/fhir/sid/icd-10-cm Morquio B mucopolysaccharidoses
   E76.219 http://hl7.org/fhir/sid/icd-10-cm Morquio mucopolysaccharidoses, unspecified
   E76.22 http://hl7.org/fhir/sid/icd-10-cm Sanfilippo mucopolysaccharidoses
   E76.29 http://hl7.org/fhir/sid/icd-10-cm Other mucopolysaccharidoses
   E76.3 http://hl7.org/fhir/sid/icd-10-cm Mucopolysaccharidosis, unspecified
   E76.8 http://hl7.org/fhir/sid/icd-10-cm Other disorders of glucosaminoglycan metabolism
   E76.9 http://hl7.org/fhir/sid/icd-10-cm Glucosaminoglycan metabolism disorder, unspecified
   E78 http://hl7.org/fhir/sid/icd-10-cm Disorders of lipoprotein metabolism and other lipidemias
   E78.0 http://hl7.org/fhir/sid/icd-10-cm Pure hypercholesterolemia
   E78.00 http://hl7.org/fhir/sid/icd-10-cm Pure hypercholesterolemia, unspecified
   E78.01 http://hl7.org/fhir/sid/icd-10-cm Familial hypercholesterolemia
   E78.1 http://hl7.org/fhir/sid/icd-10-cm Pure hyperglyceridemia
   E78.2 http://hl7.org/fhir/sid/icd-10-cm Mixed hyperlipidemia
   E78.3 http://hl7.org/fhir/sid/icd-10-cm Hyperchylomicronemia
   E78.4 http://hl7.org/fhir/sid/icd-10-cm Other hyperlipidemia
   E78.41 http://hl7.org/fhir/sid/icd-10-cm Elevated Lipoprotein(a)
   E78.49 http://hl7.org/fhir/sid/icd-10-cm Other hyperlipidemia
   E78.5 http://hl7.org/fhir/sid/icd-10-cm Hyperlipidemia, unspecified
   E78.6 http://hl7.org/fhir/sid/icd-10-cm Lipoprotein deficiency
   E78.7 http://hl7.org/fhir/sid/icd-10-cm Disorders of bile acid and cholesterol metabolism
   E78.70 http://hl7.org/fhir/sid/icd-10-cm Disorder of bile acid and cholesterol metabolism, unspecified
   E78.71 http://hl7.org/fhir/sid/icd-10-cm Barth syndrome
   E78.72 http://hl7.org/fhir/sid/icd-10-cm Smith-Lemli-Opitz syndrome
   E78.79 http://hl7.org/fhir/sid/icd-10-cm Other disorders of bile acid and cholesterol metabolism
   E78.8 http://hl7.org/fhir/sid/icd-10-cm Other disorders of lipoprotein metabolism
   E78.81 http://hl7.org/fhir/sid/icd-10-cm Lipoid dermatoarthritis
   E78.89 http://hl7.org/fhir/sid/icd-10-cm Other lipoprotein metabolism disorders
   E78.9 http://hl7.org/fhir/sid/icd-10-cm Disorder of lipoprotein metabolism, unspecified
   E79 http://hl7.org/fhir/sid/icd-10-cm Disorders of purine and pyrimidine metabolism
   E79.0 http://hl7.org/fhir/sid/icd-10-cm Hyperuricemia without signs of inflammatory arthritis and tophaceous disease
   E79.1 http://hl7.org/fhir/sid/icd-10-cm Lesch-Nyhan syndrome
   E79.2 http://hl7.org/fhir/sid/icd-10-cm Myoadenylate deaminase deficiency
   E79.8 http://hl7.org/fhir/sid/icd-10-cm Other disorders of purine and pyrimidine metabolism
   E79.9 http://hl7.org/fhir/sid/icd-10-cm Disorder of purine and pyrimidine metabolism, unspecified
   E80 http://hl7.org/fhir/sid/icd-10-cm Disorders of porphyrin and bilirubin metabolism
   E80.0 http://hl7.org/fhir/sid/icd-10-cm Hereditary erythropoietic porphyria
   E80.1 http://hl7.org/fhir/sid/icd-10-cm Porphyria cutanea tarda
   E80.2 http://hl7.org/fhir/sid/icd-10-cm Other and unspecified porphyria
   E80.20 http://hl7.org/fhir/sid/icd-10-cm Unspecified porphyria
   E80.21 http://hl7.org/fhir/sid/icd-10-cm Acute intermittent (hepatic) porphyria
   E80.29 http://hl7.org/fhir/sid/icd-10-cm Other porphyria
   E80.3 http://hl7.org/fhir/sid/icd-10-cm Defects of catalase and peroxidase
   E80.4 http://hl7.org/fhir/sid/icd-10-cm Gilbert syndrome
   E80.5 http://hl7.org/fhir/sid/icd-10-cm Crigler-Najjar syndrome
   E80.6 http://hl7.org/fhir/sid/icd-10-cm Other disorders of bilirubin metabolism
   E80.7 http://hl7.org/fhir/sid/icd-10-cm Disorder of bilirubin metabolism, unspecified

Produced 08 Sep 2023