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syndroom van frontonasale dysplasie, alopecia en afwijkingen van geslachtsorgaan (aandoening)
syndroom van frontonasale dysplasie, alopecia en afwijkingen van geslachtsorgaan
syndroom van frontonasale dysplasie, alopecia en afwijkingen van genitaliƫn
Frontonasal dysplasia with alopecia and genital anomaly syndrome
ALX4 (human aristaless-like 4) related frontonasal dysplasia with alopecia and genital anomaly
Frontonasal dysplasia with alopecia and genital abnomality
Craniofrontonasal dysplasia with alopecia and hypogonadism
A phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism. Four cases have been described in two families. The frontonasal dysplasia includes coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip. Affected individuals have mild to moderate intellectual deficit. A homozygous nonsense mutation in the human aristaless-like 4 (ALX4, 11p11.2) gene was identified in both families. The condition is transmitted as an autosomal recessive trait.
Id725029001
StatusPrimitive
Associated morphologyafwezigheid
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur van cranium
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
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