| ID |
http://id.who.int/icd/entity/656215307 |
| Preferred Name |
dysplasie frontofacionasale |
| Definitions |
Fronto-facio-nasal dysostosis is a inherited skeletal disorder characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes). |
| Type |
http://www.w3.org/2002/07/owl#Class |
| comment | Fronto-facio-nasal dysostosis is a inherited skeletal disorder characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes). Die fronto-facio-nasale Dysostosis ist eine vererbte Skelettstörung, die durch multiple kraniofaziale Anomalien (Brachyzephalie, Blepharophimose, Ptosis, s-förmige Tastrisse, Kolobom, Lippen- und Gaumenspalte, deformierte Nasenlöcher, Enzephalozele, Hypertelorismus, Mittelgesichtshypoplasie, missgebildete Augen und fehlende innere Wimpern) gekennzeichnet ist. fronto-facio-nasal dysostosis είναι μια κληρονομική σκελετικών διαταραχή που χαρακτηρίζεται από πολλαπλές κρανιοπροσωπικών ανωμαλιών (βραχυκεφαλία, blepharophimosis, πτώση, s-shaped οφθαλμίατρο σχιστιών, coloboma, σχιστίες χείλους και υπερώας, deformed nostrils, η εγκεφαλοκήλη, hypertelorism, midface υποπλασία, malformed μάτια, και στην εσωτερική βλεφαρίδων). la dysostose foetale-facio-nasale est un trouble héréditaire du squelette caractérisé par de multiples anomalies craniofaciales (brachycéphalie, blepharophimose, ptose, fissures palpébrales en forme de s, colobome, bec-de-lièvre et palais, narines déformées, encéphalocèle, hypertélorisme, hypoplasie médiane, yeux malformés et cils internes absents). fronto-facio-nasal dysostoza jest dziedziczone zaburzenia szkieletowe charakteryzuje wielu anomalii czaszkowych (brachycephaly, blepharophimosis, ptosis, s-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hiperteloryzm, hipoplazja twarzy, zniekształcone oczy, i nieobecne rzęsy wewnętrzne). |
| broaderTransitive | |
| prefLabel | dysplasie frontofacionasale |
| browserUrl | NA |
| label | frontofacionasal dysostoza dysplasie frontofacionasale Frontofacionasale Dysostosis cordite Frontofacionasal dysostosis corditis |
| subClassOf |
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