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syndroom van aplasie van tibia en ectrodactylie (aandoening)
syndroom van aplasie van tibia en ectrodactylie
syndroom van aplasie van tibia en afwijkingen van gespleten hand en gespleten voet
Tibial aplasia and ectrodactyly syndrome
Tibial hemimelia ectrodactyly syndrome
Aplasia of tibia with split hand split foot deformity
Split hand foot malformation with long bone deficiency
A rare condition with features of congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. The expression of the phenotype is highly variable and ranges from bilateral aplasia of tibiae and split-hand/split-foot deformity (tetramonodactyly or transverse hemimelia) to the mildest visible manifestation, hypoplastic big toes. Additional malformations may include distal hypoplasia or bifurcation of femora, hypo or aplasia of ulnae, and minor anomalies such as aplasia of patellae, postaxial and intermediate polydactyly in association with split-hand deformity, and cup-shaped ears. The syndrome is generally inherited in an autosomal dominant manner with reduced penetrance.
Id715531000
StatusPrimitive
Associated morphologyafwezigheid
Finding sitegehele digitus van hand of voet
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyaplasia
Finding sitebotstructuur van tibia
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ73.8
TermOverige onderontwikkeling van niet gespecificeerde extremiteit(en)
SNOMED CT to Orphanet simple map3329
SNOMED CT to ICD-10 extended map
TargetQ73.8
RuleTRUE
AdviceALWAYS Q73.8
CorrelationSNOMED CT source code to target map code correlation not specified