autosomaal recessieve hereditaire aandoening
congenitale afwijking van haar
congenitale afwijking van schildklier
congenitale hypothyreoïdie
hereditaire aandoening van endocrien systeem
hereditaire aandoening van integumentum
hereditaire ontwikkelingsstoornis
malformatiesyndroom met betrokkenheid van meerdere systemen
palatoschisis
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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 characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.
Id722375007
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van schildklier
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyfusiedefect door stoornis in ontwikkeling
Finding sitestructuur van palatum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE03.1
TermCongenitale hypothyroïdie zonder struma
TargetQ35.9
TermGespleten gehemelte, niet gespecificeerd
TargetQ84.2
TermOverige congenitale misvormingen van haar
SNOMED CT to Orphanet simple map1226
SNOMED CT to ICD-10 extended map
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