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\Intellectual disability\Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)
\Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of sulphur-bearing amino acid metabolism\Hypermethioninemia\Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)

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

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

984781000172117 retard psychomoteur par déficit en S-adénosylhomocystéine hydrolase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

1018791000172116 hyperméthioninémie par déficit en S-adénosylhomocystéine hydrolase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

931621000172117 hypermethioninemie als gevolg van S-adenosylhomocysteïnehydrolasedeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

1020291000172119 psychomotorische retardatie als gevolg van S-adenosylhomocysteïnehydrolasedeficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)	Due to	Deficiency of S-adenosylhomocysteine hydrolase (disorder)	true	Inferred relationship	Some	1
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)	Is a	Hypermethioninemia	true	Inferred relationship	Some
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)	Is a	retard mental	false	Inferred relationship	Some
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4

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
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
984781000172117	retard psychomoteur par déficit en S-adénosylhomocystéine hydrolase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
1018791000172116	hyperméthioninémie par déficit en S-adénosylhomocystéine hydrolase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
931621000172117	hypermethioninemie als gevolg van S-adenosylhomocysteïnehydrolasedeficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
1020291000172119	psychomotorische retardatie als gevolg van S-adenosylhomocysteïnehydrolasedeficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)