||
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
A rare condition with characteristics of intellectual disability, delayed development of speech and motor skills, hypotonia from birth, lethargy, weak cry, facial weakness, feeding difficulties, failure to thrive. Dysphagia often lasts into adolescence. While muscle tone may improve over time, affected individuals usually have some weakness into adulthood. The weakness can lead to permanent contractures and scoliosis. Also associated with unusual facial features, cleft palate, long neck, narrow chest, tapered fingers. Caused by mutations in the KCNK9 gene, which alter TASK3 channels reducing the flow of ions through the channels and disrupting normal neuron development and excitability. Follows an autosomal dominant pattern of inheritance. About 20 percent of cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
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