Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4639188011 | Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
13117491000146118 | syndroom van postnatale microcefalie, infantiele hypotonie, spastische diplegie, dysartrie en verstandelijke beperking | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
13117501000146111 | syndroom van postnatale microcefalie, infantiele hypotonie, spastische diplegie, dysartrie en mentale retardatie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
13117511000146113 | syndroom van postnatale microcefalie, infantiele hypotonie, spastische diplegie, dysartrie en verstandelijke beperking (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
13117521000146115 | syndroom van postnatale microcefalie, infantiele hypotonie, spastische diplegie, dysartrie en verstandelijke handicap | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
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 | Entire term case sensitive (core metadata concept) | 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 (finding) | true | Inferred relationship | Some | ||
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Is a | Disorder of head (disorder) | 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 | Head structure | true | Inferred relationship | Some | 2 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Pathological process (attribute) | 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 | Lower limb structure | 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 (qualifier value) | true | Inferred relationship | Some | 6 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Interprets | Intellectual ability (observable entity) | 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 behavior (observable entity) | 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 (body structure) | true | Inferred relationship | Some | 5 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Finding site | Structure of left lower limb (body structure) | 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 |
This concept is not in any reference sets