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Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome (disorder)
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
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.
syndroom van postnatale microcefalie, infantiele hypotonie, spastische diplegie, dysartrie en verstandelijke beperking
syndroom van postnatale microcefalie, infantiele hypotonie, spastische diplegie, dysartrie en verstandelijke handicap
syndroom van postnatale microcefalie, infantiele hypotonie, spastische diplegie, dysartrie en mentale retardatie
Id1173998003
StatusPrimitive
Finding siteHead structure
Pathological processPathological developmental process
Has interpretationBelow reference range
InterpretsHead circumference
Associated morphologyDegenerative abnormality
Finding siteSpinal cord structure
Clinical courseProgressive
ICD-10 complex map reference set
TargetG11.4
RuleTRUE
AdviceALWAYS G11.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified