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

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\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\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of sulfur-bearing amino acid metabolism\Hypermethioninaemia\Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
• \Disease\Developmental disorder\Developmental hereditary disorder\Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency

Status: current, Primitive. 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	Initial character case insensitive	SNOMED CT core
3429222011	Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3429223018	Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3429224012	Hypermethioninaemia due to S-adenosylhomocysteine hydrolase deficiency	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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