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Bamforth-Lazarus-syndroom (aandoening)
Bamforth-Lazarus-syndroom
syndroom van Bamforth-Lazarus
syndroom van hypothyreoïdie en gespleten gehemelte
Bamforth-syndroom
Bamforth Lazarus syndrome
Hypothyroidism and cleft palate syndrome
Athyroidal hypothyroidism with spiky hair and cleft palate syndrome
A very rare syndrome of congenital hypothyroidism with characteristics of thyroid dysgenesis, cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. Only 8 patients from 6 families have been reported to date. Newborns present at birth with thyroid dysgenesis (in most cases athyreosis) leading to congenital hypothyroidism that manifests with lethargy, poor feeding, macroglossia, cold or mottled skin, persistent jaundice and umbilical hernia. All newborns have a cleft palate and spiky hair. The syndrome is due to homozygous loss-of-function missense mutations located within the forkhead domain of the FOXE1 gene (9q22), encoding thyroid transcription factor 2 (TTF-2). TTF-2 is expressed in the thyroid gland (as well as elsewhere like the tongue, epiglottis and palate) and is thought to play a crucial role in thyroid morphogenesis. The disease is inherited autosomal recessively.
Id722375007
StatusPrimitive
Associated morphologyfusiedefect
Finding sitestructuur van palatum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetE03.1
RuleTRUE
AdviceALWAYS E03.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ35.9
RuleTRUE
AdviceALWAYS Q35.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ84.2
RuleTRUE
AdviceALWAYS Q84.2
CorrelationSNOMED CT source code to target map code correlation not specified