724039002: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
• \Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of sulphur-bearing amino acid metabolism\Hypermethioninaemia\Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3429221016	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3429222011	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3429223018	Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3429224012	Hypermethioninaemia due to S-adenosylhomocysteine hydrolase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5403200019	A rare, multisystemic inherited metabolic disease characterized clinically, by a variable spectrum of severity, primarily comprised of psychomotor delay, myopathy and liver dysfunction. Most patients present in infancy, but the onset can be already in utero or in adult age. Hypermethioninemia is frequent, but often absent in infancy. Creatine kinase is elevated in most patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403201015	A rare, multisystemic inherited metabolic disease characterised clinically, by a variable spectrum of severity, primarily comprised of psychomotor delay, myopathy and liver dysfunction. Most patients present in infancy, but the onset can be already in utero or in adult age. Hypermethioninaemia is frequent, but often absent in infancy. Creatine kinase is elevated in most patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3429221016	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3429222011	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3429223018	Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3429224012	Hypermethioninaemia due to S-adenosylhomocysteine hydrolase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3429225013	This syndrome is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels. It has been described in three unrelated patients. Transmission appears to be autosomal recessive. Two causative mutations have been identified in the gene encoding S-adenosylhomocysteine hydrolase (SAHH; AHCY), an enzyme involved in methionine metabolism. A methionine-restricted diet, together with creatine supplements, may partly improve the delayed myelination and psychomotor development.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3429226014	This syndrome is characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninemia and elevated serum creatine kinase levels. It has been described in three unrelated patients. Transmission appears to be autosomal recessive. Two causative mutations have been identified in the gene encoding S-adenosylhomocysteine hydrolase (SAHH; AHCY), an enzyme involved in methionine metabolism. A methionine-restricted diet, together with creatine supplements, may partly improve the delayed myelination and psychomotor development.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403200019	A rare, multisystemic inherited metabolic disease characterized clinically, by a variable spectrum of severity, primarily comprised of psychomotor delay, myopathy and liver dysfunction. Most patients present in infancy, but the onset can be already in utero or in adult age. Hypermethioninemia is frequent, but often absent in infancy. Creatine kinase is elevated in most patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403201015	A rare, multisystemic inherited metabolic disease characterised clinically, by a variable spectrum of severity, primarily comprised of psychomotor delay, myopathy and liver dysfunction. Most patients present in infancy, but the onset can be already in utero or in adult age. Hypermethioninaemia is frequent, but often absent in infancy. Creatine kinase is elevated in most patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3437551001000111	S-Adenosylhomocystein-Hydrolase-Defizienz	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
984781000172117	retard psychomoteur par déficit en S-adénosylhomocystéine hydrolase	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1018791000172116	hyperméthioninémie par déficit en S-adénosylhomocystéine hydrolase	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
984781000172117	retard psychomoteur par déficit en S-adénosylhomocystéine hydrolase	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1018791000172116	hyperméthioninémie par déficit en S-adénosylhomocystéine hydrolase	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3437551001000111	S-Adenosylhomocystein-Hydrolase-Defizienz	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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