vergroot foramen parietale (aandoening)
vergroot foramen parietale
symmetrisch foramen parietale
erfelijk cranium bifidum
Enlarged parietal foramina
Catlin marks
Symmetric parietal foramina
Hereditary cranium bifidum
A developmental defect with manifestation of variable intramembranous ossification defects of the parietal bones, which is asymptomatic, symptomatic or associated with other pathologies. A congenital disorder caused by insufficient ossification around the parietal notch. In most cases this results from heterozygous loss of function mutations in human homeobox genes, MSX2 (5q35.2) and ALX4 (11p11.2), which encode transcription factors involved in skeletal development. Transmission is autosomal dominant with high but incomplete penetrance.
Has interpretationafwijkend
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map60015
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q75.8
CorrelationSNOMED CT source code to target map code correlation not specified