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syndroom van holoprosencefalie en radiale, cardiale en renale anomalie├źn (aandoening)
syndroom van holoprosencefalie en radiale, cardiale en renale anomalie├źn
syndroom van Steinfeld
Steinfeld syndrome
This syndrome has characteristics of holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. It has been described in two families (with at least seven affected persons). Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula. Inheritance is likely to be autosomal dominant with variable expressivity.
Id716233007
StatusPrimitive
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map3186
SNOMED CT to ICD-10 extended map
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified