Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4639187018 | Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
4639188011 | Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
4639189015 | A rare genetic neurological disorder with characteristics of postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech and dysarthria. Seizures and mildly dysmorphic features have been described in some patients. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Is a | Microcephaly | true | Inferred relationship | Some | ||
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Is a | Disorder of head | true | Inferred relationship | Some | ||
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Is a | Complicated hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Finding site | Structure of head | true | Inferred relationship | Some | 2 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Pathological process | Pathological developmental process | false | Inferred relationship | Some | 3 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Interprets | Head circumference | true | Inferred relationship | Some | 1 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 1 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Finding site | Spinal cord structure | true | Inferred relationship | Some | 4 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 4 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Finding site | Structure of lower limb | false | Inferred relationship | Some | 5 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Is a | Autosomal recessive hereditary spastic paraplegia | true | Inferred relationship | Some | ||
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Is a | Chronic mental disorder | false | Inferred relationship | Some | ||
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Clinical course | Progressive | true | Inferred relationship | Some | 6 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 3 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 7 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 7 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Interprets | Movement | true | Inferred relationship | Some | 8 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Finding site | Structure of right lower limb | true | Inferred relationship | Some | 5 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Finding site | Structure of left lower limb | true | Inferred relationship | Some | 9 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Interprets | Movement observable | true | Inferred relationship | Some | 10 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Has interpretation | Absent | true | Inferred relationship | Some | 10 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set