Autosomal recessive hereditary disorder
Developmental hereditary disorder
Intellectual disability
|||
Grubben, De Cock, Borghgraef syndrome (disorder)
Grubben, De Cock, Borghgraef syndrome
Developmental delay, hypotonia, extremities hypertrophy syndrome
A rare intellectual disability syndrome characterized by pre and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency has also been reported in some patients.
syndroom van ontwikkelingsachterstand, hypotonie en hypotrofie van extremiteit
syndroom van Grubben-de Cock-Borghgraef
Id763186006
StatusPrimitive
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified