OMOP Concept 37161214
Hyperphenylalaninemia due to DNAJC12 deficiency
StandardConditionSNOMED1177177000Disorder
Maps from
0
Descendants
0
Valid from
31 Oct 2021
Valid to
31 Dec 2099
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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.
Broader concepts
(29)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Dystonia
- 1Hereditary disorder of nervous system
- 1Hyperphenylalaninemia
- 2Aminoacidemia
- 2Autosomal hereditary disorder
- 2Disorder of nervous system
- 2Disorder of phenylalanine metabolism
- 2Extrapyramidal disease
- 2Hereditary disorder by system
- 3Acidemia
- 3Disorder of amino acid and organic acid metabolism
- 3Disorder of body system
- 3Disorder of brain
- 3Hereditary disease
- 3Movement disorder
- 4Disease
- 4Disorder of acid-base balance
- 4Disorder of amino acid metabolism
- 4Disorder of head
- 4Disorder of the central nervous system
- 4Finding of brain
- 4Finding of movement
- 4Genetic disease
- 5Central nervous system finding
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