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syndroom van neurobiologische ontwikkelingsstoornis, craniofaciale dysmorfie, hartdefect en skeletafwijkingen (aandoening)
syndroom van neurobiologische ontwikkelingsstoornis, craniofaciale dysmorfie, hartdefect en skeletafwijkingen
syndroom van neurologische ontwikkelingsstoornis, craniofaciale dysmorfie, hartdefect en skeletale anomalie├źn
syndroom van Au-Kline
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome
Au Kline syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, intellectual disability, hypotonia, craniofacial dysmorphism (such as ridged metopic sutures, long palpebral fissures, broad nasal bridge, hypoplastic alae nasi, low-set, prominent ears, prominent midline tongue groove and downturned mouth), congenital heart defects and variable skeletal abnormalities including hip dysplasia, vertebral anomalies and scoliosis. Additional reported manifestations include high pain tolerance and genitourinary anomalies. Brain imaging may show a thin corpus callosum or white matter abnormalities.
Id1222710008
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van hart
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
InterpretsAdaptation behavior
Has interpretationgestoord
Interpretsintellectueel vermogen
SNOMED CT to Orphanet simple map453499
SNOMED CT to ICD-10 extended map
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified