1177177000: Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of movement\Movement disorder\Extrapyramidal disease\Dystonia\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \Central nervous system finding\Finding of brain\Encephalopathy\Extrapyramidal disease\Dystonia\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Dystonia\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Extrapyramidal disease\Dystonia\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \Disorder of head\Encephalopathy\Extrapyramidal disease\Dystonia\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Dystonia\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \Disease\Disorder of head\Encephalopathy\Extrapyramidal disease\Dystonia\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \Disease\Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Hyperphenylalaninaemia\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \Disease\Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of phenylalanine metabolism\Hyperphenylalaninaemia\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \Disease\Metabolic disease\Disorder of acid-base balance\Acidaemia\Aminoacidaemia\Hyperphenylalaninaemia\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \Disease\Movement disorder\Extrapyramidal disease\Dystonia\Hyperphenylalanineaemia due to DNAJC12 deficiency

Status: current, Primitive. Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4643896014	Hyperphenylalanineaemia due to DNAJC12 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4643897017	Hyperphenylalaninemia due to DNAJC12 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4643898010	Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4643899019	Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
4643900012	Hyperphenylalanineaemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4643901011	Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4643902016	Non-phenylketonuric non-BH4-deficiency hyperphenylalanineaemia	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4643903014	A rare inborn error of metabolism with characteristics of increased serum phenylalanine, associated with variable neurological symptoms ranging from mild autistic features or hyperactivity to severe intellectual disability, dystonia, and parkinsonism. Laboratory analyses show normal tetrahydrobiopterin (BH4) metabolism and low levels of the CSF monoamine neurotransmitter metabolites homovanillic acid and 5-hydroxyindoleacetic acid.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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