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

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of movement (finding)\Movement disorder\Extrapyramidal disease\Dystonia\Hyperphenylalanineaemia due to DNAJC12 deficiency

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Hyperphenylalanineaemia due to DNAJC12 deficiency
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Hyperphenylalanineaemia due to DNAJC12 deficiency

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Hyperphenylalanineaemia due to DNAJC12 deficiency

\Disorder of head (disorder)\Disorder of brain (disorder)\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\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hyperphenylalanineaemia due to DNAJC12 deficiency
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Hyperphenylalanineaemia due to DNAJC12 deficiency
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Hyperphenylalanineaemia due to DNAJC12 deficiency
\Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Hyperphenylalaninemia\Hyperphenylalanineaemia due to DNAJC12 deficiency
\Disease\Metabolic disease\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\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperphenylalaninemia\Hyperphenylalanineaemia due to DNAJC12 deficiency
\Disease\Movement disorder\Extrapyramidal disease\Dystonia\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

5324511000052113 hyperfenylalaninemi orsakad av DNAJC12-brist sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyperphenylalanineaemia due to DNAJC12 deficiency	Is a	Dystonia	true	Inferred relationship	Some
Hyperphenylalanineaemia due to DNAJC12 deficiency	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Hyperphenylalanineaemia due to DNAJC12 deficiency	Is a	Hyperphenylalaninemia	true	Inferred relationship	Some
Hyperphenylalanineaemia due to DNAJC12 deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hyperphenylalanineaemia due to DNAJC12 deficiency	Interprets	Movement	true	Inferred relationship	Some	2
Hyperphenylalanineaemia due to DNAJC12 deficiency	Finding site	Extrapyramidal system structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
5324511000052113	hyperfenylalaninemi orsakad av DNAJC12-brist	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)