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'chloride voltage-gated channel 4'-gerelateerd X-gebonden syndroom van verstandelijke beperking (aandoening)
CLCN4-gerelateerd X-gebonden syndroom van verstandelijke beperking
CLCN4-gerelateerd X-gebonden syndroom van mentale retardatie
Raynaud-Claes-syndroom
MRX15-syndroom
MRX49-syndroom
'chloride voltage-gated channel 4'-gerelateerd X-gebonden syndroom van verstandelijke beperking
CLCN4-gerelateerd X-gebonden syndroom van verstandelijke handicap
CLCN4-related X-linked intellectual disability syndrome
Raynaud Claes syndrome
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome
A rare X-linked syndromic intellectual disability characterized by intellectual disability of variable degree, behavioral anomalies (including autism, mood disorders, obsessive-compulsive behavior, and hetero- and auto-aggression), and epilepsy. Progressive neurological symptoms like movement disorders and spasticity, as well as subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males.
Id1172691004
StatusPrimitive
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
SNOMED CT to Orphanet simple map485350
SNOMED CT to ICD-10 extended map
TargetF78.1
RuleTRUE
AdviceALWAYS F78.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified