281411007: Spastic diplegia (disorder)
Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core
Descriptions:
Expanded Value Set
Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Spastic diplegia of upper limbs (disorder) |
Is a |
True |
Spastic diplegia |
Inferred relationship |
Some |
|
A rare genetic syndromic intellectual disability disorder characterised by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioural anomalies (autistic features, aggression or auto-aggressive behaviour, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated. |
Is a |
True |
Spastic diplegia |
Inferred relationship |
Some |
|
A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982. |
Is a |
True |
Spastic diplegia |
Inferred relationship |
Some |
|
This concept is not in any reference sets
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