Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4673890011 | Autosomal recessive spastic paraplegia type 9B | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
4673891010 | Autosomal recessive spastic paraplegia type 9B (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5399624011 | A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5399625012 | A rare complex hereditary spastic paraplegia characterised by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4673890011 | Autosomal recessive spastic paraplegia type 9B | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
4673891010 | Autosomal recessive spastic paraplegia type 9B (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
4673892015 | A rare complex hereditary spastic paraplegia with characteristics of early onset of slowly progressive spastic para or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature and urinary incontinence. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5399624011 | A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5399625012 | A rare complex hereditary spastic paraplegia characterised by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3443241001000115 | Spastische Paraplegie, autosomal-rezessive, Typ 9B | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5797951000241115 | paraplégie spastique autosomique récessive de type 9B | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5797951000241115 | paraplégie spastique autosomique récessive de type 9B | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3443241001000115 | Spastische Paraplegie, autosomal-rezessive, Typ 9B | 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 |
A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence. | Is a | Autosomal recessive hereditary spastic paraplegia | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence. | Is a | Complicated hereditary spastic paraplegia (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence. | Clinical course | Progressive | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence. | Finding site | Lower limb structure (body structure) | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence. | Finding site | Spinal cord structure | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence. | Associated morphology | Degenerative abnormality (morphologic abnormality) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence. | Interprets | Movement | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 6 | |
A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence. | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence. | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 5 | |
A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence. | Interprets | Movement observable | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 4 | |
A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence. | Has interpretation | Absent | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)