| Source | us.nlm.vsac#0.11.0:null (v4.0.1) |
| resourceType | ValueSet |
| id | 2.16.840.1.113762.1.4.1034.545 |
| canonical | http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1034.545 |
| version | 20210113 |
| status | active |
| publisher | American Academy of Neurology Steward |
| name | InbornErrorsOfMetabolism |
| title | Inborn Errors of Metabolism |
| date | 2021-01-13T01:00:22-05:00 |
| experimental | false |
| description | ICD10 codes for inborn errors of metabolism as they related to Axon Registry quality measure 32 - infantile spasms. |
| Usages | (none) |
This value set contains 43 concepts
| Code | System | Display |
| D52.9 | http://hl7.org/fhir/sid/icd-10-cm | Folate deficiency anemia, unspecified |
| E53.1 | http://hl7.org/fhir/sid/icd-10-cm | Pyridoxine deficiency |
| E70.0 | http://hl7.org/fhir/sid/icd-10-cm | Classical phenylketonuria |
| E71.0 | http://hl7.org/fhir/sid/icd-10-cm | Maple-syrup-urine disease |
| 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 |
| E71.120 | 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 |
| E71.30 | http://hl7.org/fhir/sid/icd-10-cm | Disorder of fatty-acid metabolism, unspecified |
| 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 |
| E71.39 | http://hl7.org/fhir/sid/icd-10-cm | Other disorders of fatty-acid 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 |
| E71.440 | 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 |
| E71.50 | http://hl7.org/fhir/sid/icd-10-cm | Peroxisomal disorder, unspecified |
| 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 |
| E71.520 | 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 |
| E71.540 | 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 |
| E72.9 | http://hl7.org/fhir/sid/icd-10-cm | Disorder of amino-acid metabolism, unspecified |
| E74.8 | http://hl7.org/fhir/sid/icd-10-cm | Other specified disorders of carbohydrate metabolism |
| E88.9 | http://hl7.org/fhir/sid/icd-10-cm | Metabolic disorder, unspecified |
Produced 08 Sep 2023