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 |
5399442011 | A rare genetic neurological disorder characterized by 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 |
5399443018 | A rare genetic neurological disorder characterised by 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 |
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 |
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 |
5399442011 | A rare genetic neurological disorder characterized by 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 |
5399443018 | A rare genetic neurological disorder characterised by 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 |
3420911001000116 | Postnatale Microzephalie-infantile Hypotonie-spastische Diplegie-Dysarthrie-Intelligenzminderung-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6498711000241110 | syndrome de microcéphalie postnatale, hypotonie infantile, diplégie spastique, dysarthrie et déficience intellectuelle | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6498711000241110 | syndrome de microcéphalie postnatale, hypotonie infantile, diplégie spastique, dysarthrie et déficience intellectuelle | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3420911001000116 | Postnatale Microzephalie-infantile Hypotonie-spastische Diplegie-Dysarthrie-Intelligenzminderung-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Is a | Intelligenzminderung | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Is a | Microcephaly (finding) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Is a | Disorder of head (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Is a | Complicated hereditary spastic paraplegia (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Finding site | Head structure (body structure) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Pathological process (attribute) | Pathological developmental process (qualifier value) | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Interprets | Head circumference | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Has interpretation | Below reference range | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 4 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Finding site | Spinal cord structure | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 4 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Associated morphology | Degenerative abnormality (morphologic abnormality) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 4 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 5 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Finding site | Lower limb structure (body structure) | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 5 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Is a | Autosomal recessive hereditary spastic paraplegia | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Is a | Chronic mental disorder | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Clinical course | Progressive | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 6 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Has interpretation | Impaired (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 7 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Has interpretation | Impaired (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 7 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Interprets | Movement | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 8 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 5 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 9 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Interprets | Movement observable | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 10 | |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome | Has interpretation | Absent | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 10 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)