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Hallermann-Streiff-achtig syndroom (aandoening)
Hallermann-Streiff-achtig syndroom
ernstig syndroom van Hallermann-Streiff-Fran├žois
syndroom van Dennis-Fairhurst-Moore
Hallermann Streiff like syndrome
Hallermann Streiff Fran├žois syndrome severe form
Dennis Fairhurst Moore syndrome
A rare genetic bone development disorder with characteristics of multiple congenital fractures, slender ribs and long bones, deficient ossification of the skull and dysmorphic facial features reminiscent of Hallermann-Streiff syndrome (such as high forehead and triangular face with small jaw, deep-set eyes, beaked, narrow nose, downturned mouth and posteriorly angulated ears). Bilateral microphthalmia, cataracts and pulmonary hypoplasia have also been reported. The disease is fatal in the neonatal period.
Id1197057002
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van skeletstelsel
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map2109
SNOMED CT to ICD-10 extended map
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified