The way property values are displayed:
The way concept relations are shown:
The way concept relations are shown:
Mandibulofacial Dysostosis
Hierarchy: | ∟ ∟ ∟ ∟ ∟ ∟ Mandibulofacial Dysostosis 2 coordinate concepts1 subordinate concept∟ ∟ ∟ ∟ ∟ ∟ Mandibulofacial Dysostosis 2 coordinate concepts1 subordinate concept∟ ∟ ∟ ∟ ∟ Mandibulofacial Dysostosis 2 coordinate concepts1 subordinate conceptX |
Broader terms: | |
Narrower terms: | |
Annotation: | a form of craniofacial dysostosis; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
X |
Scope note: | A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)
X |
activeMeSHYear*: | |
dateCreated*: | 1999-01-01X |
dateRevised*: | 2001-07-25X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | agsX |
recordOriginator*: | NLMX |
Type: | |
Coordinate terms: | |
URI: | |
Labels and equivalent concepts: | Mandibulofasiaalinen dysostoosi (fi) XTreacher Collinsin syndrooma (fi, replaced) Treacher Collinsin oireyhtymä (fi, replaced) Franseschettin oireyhtymä (fi, replaced) Franseschettin syndrooma (fi, replaced) Mandibulofacial dysostos (sv) Treacher Collins syndrom (sv, replaced) Treacher Collins Syndrome (en, replaced) Dysostosis mandibulofacialis (la-FI, replaced) |
Share: |
Loading results...