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syndroom van verstandelijke beperking type Birk-Barel (aandoening)
syndroom van verstandelijke beperking type Birk-Barel
syndroom van Birk-Barel
syndroom van mentale retardatie, hypotonie en faciale dysmorfie
syndroom van verstandelijke beperking, hypotonie en faciale dysmorfie
'KCNK9-imprinting'-syndroom
syndroom van verstandelijke handicap, hypotonie en faciale dysmorfie
Birk-Barel-syndroom
Intellectual disability Birk-Barel type
Birk Barel mental retardation dysmorphism syndrome
KCNK9 (potassium two pore domain channel subfamily K member 9) imprinting syndrome
Intellectual disability, hypotonia, facial dysmorphism syndrome
Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.
Id764861005
StatusPrimitive
Associated morphologymorfologische afwijking
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map166108
SNOMED CT to ICD-10 extended map
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