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syndroom van hypertrichose, kleine gestalte, faciale dysmorfie en ontwikkelingsachterstand (aandoening)
syndroom van hypertrichose, kleine gestalte, faciale dysmorfie en ontwikkelingsachterstand
syndroom van Wiedemann-Steiner
Wiedemann Steiner syndrome
Hypertrichosis, short stature, facial dysmorphism, developmental delay syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back and seizures. There is evidence the disease is caused by heterozygous mutation in the MLL gene on chromosome 11q23.
Id763618001
StatusPrimitive
Associated morphologyverandering in groei
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified