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\Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency

\Central nervous system finding\Finding of brain\Disorder of brain\Extrapyramidal disease\Dystonia\Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Extrapyramidal disease\Dystonia\Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency

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

\Finding of brain\Disorder of brain\Extrapyramidal disease\Dystonia\Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency

\Disorder of head\Disorder of brain\Extrapyramidal disease\Dystonia\Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Extrapyramidal disease\Dystonia\Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency
\Disease\Disorder of head\Disorder of brain\Extrapyramidal disease\Dystonia\Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency
\Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Hyperphenylalaninemia\Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 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\Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency
\Disease\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperphenylalaninemia\Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency
\Disease\Movement disorder\Extrapyramidal disease\Dystonia\Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency

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

Descriptions:

Id Description Lang Type Status Case? Module

4643896014 Hyperphenylalanineaemia due to DNAJC12 deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

4643897017 Hyperphenylalaninemia due to DNAJC12 deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

4643898010 Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

4643899019 Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

4643900012 Hyperphenylalanineaemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

4643901011 Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia en Synonym Active Only initial character case insensitive SNOMED CT core module

4643902016 Non-phenylketonuric non-BH4-deficiency hyperphenylalanineaemia en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency	Is a	Dystonia	true	Inferred relationship	Existential restriction modifier
Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency	Is a	Hyperphenylalaninemia	true	Inferred relationship	Existential restriction modifier
Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency	Interprets	Movement	true	Inferred relationship	Existential restriction modifier	2
Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency	Finding site	Extrapyramidal system structure	true	Inferred relationship	Existential restriction modifier	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	Active	Only initial character case insensitive	SNOMED CT core module
4643897017	Hyperphenylalaninemia due to DNAJC12 deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4643898010	Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4643899019	Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
4643900012	Hyperphenylalanineaemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4643901011	Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4643902016	Non-phenylketonuric non-BH4-deficiency hyperphenylalanineaemia	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module