OMOP Concept 37161214

Hyperphenylalaninemia due to DNAJC12 deficiency

StandardConditionSNOMED1177177000Disorder
Maps from
0
Descendants
0
Valid from
31 Oct 2021
Valid to
31 Dec 2099
OMOP concepts

Concept Lookup Tool

Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.

Synonyms

Alternative names recorded for Hyperphenylalaninemia due to DNAJC12 deficiency across source vocabularies.

  • hiperfenilalaninemia no fenilcetonúrica sin deficiencia de BH4
  • hiperfenilalaninemia por deficiencia de DNAJC12
  • hiperfenilalaninemia por deficiencia de DNAJC12 (trastorno)
  • Hyperphenylalanineaemia due to DNAJC12 deficiency
  • Hyperphenylalanineaemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency
  • Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency
  • Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency (disorder)
  • Non-phenylketonuric non-BH4-deficiency hyperphenylalanineaemia
  • Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia

Where it sits in the hierarchy

Ordered by distance - 1 is a direct parent or child.

Get this concept via the API

Resolve Hyperphenylalaninemia due to DNAJC12 deficiency - and every code that maps to it - over HTTPS, against the current vocabulary release. No downloads, no local database.

curl "https://api.omophub.com/v1/concepts/37161214?include_relationships=true" \
  -H "Authorization: Bearer $OMOPHUB_API_KEY"
Get your free API key3,000 calls/month free · no credit card