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 |
| 1018791000172116 | hyperméthioninémie par déficit en S-adénosylhomocystéine hydrolase | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 |
| 760221000241119 | retard psychomoteur par déficit en S-adénosylhomocystéine hydrolase (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 984781000172117 | retard psychomoteur par déficit en S-adénosylhomocystéine hydrolase | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 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) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| 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) | est un(e) (attribut) | Hypermethioninaemia | true | Inferred relationship | Some | ||
| Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
| Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR