Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3755636014 | Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3755637017 | Asparagine synthetase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3755638010 | Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3755639019 | A rare genetic neurometabolic disorder with characteristics of severe progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the ASNS gene on chromosome 7q21. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome | est un(e) (attribut) | atrophie cérébrale | true | Inferred relationship | Some | ||
| Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome | est un(e) (attribut) | microcéphalie | false | Inferred relationship | Some | ||
| Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome | est un(e) (attribut) | Global developmental delay | true | Inferred relationship | Some | ||
| Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome | est un(e) (attribut) | Inborn error of amino acid metabolism | true | Inferred relationship | Some | ||
| Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome | est un(e) (attribut) | anomalie congénitale de l'encéphale | false | Inferred relationship | Some | ||
| Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome | morphologie associée (attribut) | Congenital smallness | true | Inferred relationship | Some | 2 | |
| Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome | localisation d'une constatation (attribut) | structure du cerveau | true | Inferred relationship | Some | 1 | |
| Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | 2 | |
| Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome | morphologie associée (attribut) | atrophie (anomalie morphologique) | true | Inferred relationship | Some | 1 | |
| Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome | est un(e) (attribut) | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
| Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome | est un(e) (attribut) | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome | localisation d'une constatation (attribut) | structure de la tête | true | Inferred relationship | Some | 2 | |
| Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 3 | |
| Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome | interprète (attribut) | Birth head circumference | true | Inferred relationship | Some | 3 | |
| Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome | est un(e) (attribut) | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR