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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du mouvement\Movement disorder\Extrapyramidal disease\dystonie\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \affection de la tête\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \Disease\affection de la tête\Disorder of brain (disorder)\Extrapyramidal disease\dystonie\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \Disease\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Hyperphenylalaninemia\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \Disease\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of phenylalanine metabolism\Hyperphenylalaninemia\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \Disease\trouble métabolique\Disorder of acid-base balance\Acidemia\Aminoacidaemia\Hyperphenylalaninemia\Hyperphenylalanineaemia due to DNAJC12 deficiency
• \Disease\Movement disorder\Extrapyramidal disease\dystonie\Hyperphenylalanineaemia due to DNAJC12 deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4643896014	Hyperphenylalanineaemia due to DNAJC12 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4643897017	Hyperphenylalaninemia due to DNAJC12 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4643898010	Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4643899019	Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4643900012	Hyperphenylalanineaemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4643901011	Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4643902016	Non-phenylketonuric non-BH4-deficiency hyperphenylalanineaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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