Ορισμός, συνώνυμα κ.ά.

Ορισμός:

Osteogenesis Imperfecta:

"Autosomal dominant COLLAGEN DISEASES resulting from defective biosynthesis of COLLAGEN TYPE I and characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. There are four major types, I-IV."

Ατελής Οστεογένεση:

"Αυτοχρωμοσωματική επικρατούσα ΑΣΘΕΝΕΙΑ ΤΟΥ ΚΟΛΛΑΓΟΝΟΥ ως αποτέλεσμα της ελαττωματικής βιοσύνθεσης του ΚΟΛΛΑΓΟΝΟΥ ΤΥΠΟΥ Ι (COLLAGEN TYPE I) η οποία χαρακτηρίζεται από εύθραυστα, οστεοπορωτικά οστά τα οποία παθαίνουν εύκολα κατάγματα. Μπορεί επίσης να συνυπάρχουν μπλε σκληρός, χαλαρές αρθρώσεις και ατελής σχηματισμό της οδοντίνης. Υπάρχουν τέσσερις βασικοί τύποι, I-IV."

Source: Medical Subject Headings, 2005_2005_01_17

Ιστορία και εναλλακτικά ονόματα:

Αυτή η κατάσταση, ή τύποι αυτής, είχε διάφορα άλλα ονόματα κατά τη διάρκεια των χρόνων και σε διάφορες εθνότητες. Ανάμεσα σε αυτές οι πιο συνήθεις είναι οι εξής: σύνδρομο Ekman-Lobstein, σύνδρομο Vrolik και colloquial glass-bone disease. Το όνομα "ατελής οστεογένεση" χρονολογείται γύρω στο 1895 και είναι ο συνήθης ιατρικός όρος κατά τον εικοστό αιώνα μέχρι και σήμερα. Το τρέχον σύστημα κατάταξης σε τέσσερις τύπους ξεκίνησε από τον Sillence το 1979. Ένα παλιότερο σύστημα κατάτασσε τις πιο ήπιες μορφές ως "Osteogenesis Imperfecta Tarda" ενώ τις πιο σοβαρές μορφές της ασθένειας ως "Osteogenesis Imperfecta Congenita". Καθώς όμως αυτό δεν διαφοροποιούσε ικανοποιητικά ...
Αυτή η ασθένεια έχει βρεθεί σε μια αρχαία αιγυπτιακή μούμια από το 1000 π.Χ.

Source: wikipedia.org

History and alternative names The condition, or types of it, have had various other names over the years and in different nations. Among some of the most common alternatives are Ekman-Lobstein syndrome, Vrolik syndrome, and the colloquial glass-bone disease. The name "Osteogenesis Imperfecta" dates to at least 1895[8] and has been the usual medical term in the twentieth century to present. The current four type system began with Sillence in 1979.[9] An older system deemed less severe types "Osteogenesis Imperfecta Tarda" while more severe forms were deemed "Osteogenesis Imperfecta Congenita."[10] As this did not differentiate well, and all forms are congenital, this has since fallen out of favour. The condition has been found in an Ancient Egyptian mummy from 1000 BC. The Norse king Ivar the Boneless may have had this condition as well. The earliest studies of it began in 1788 with the Swede Olof Jakob Ekman. He described the condition in his doctoral thesis and mentioned cases of it going back to 1678. In 1831, Edmund Axmann described it in himself and two brothers. Johann Friedrich Georg Christian Martin Lobstein dealt with it in adults in 1833. Willem Vrolik did work on the condition in the 1850s. The idea that the adult and newborn forms were the same came in 1897 with Martin Benno Schmidt.[11]

Συνώνυμα:

Synonym / term
(links search using term)		 Code
 		 Source vocabulary
 		 UMLS Concept
Unique Identifier
osteogenesis imperfecta 1849-7175 CRISP Thesaurus, 2004 C0029434
brittle bone disease 1849-7175 CRISP Thesaurus, 2004 C0029434
Osteogenesis imperfecta 756.51 ICD-9-CM, 2005 C0029434
Osteopsathyrosis 756.51 Metathesaurus additional entry terms for ICD-9-CM, 2005, 2005 C0029434
Fragilitas ossium 756.51 Metathesaurus additional entry terms for ICD-9-CM, 2005, 2005 C0029434
Osteogenesis Imperfecta C26837 NCI Thesaurus, 2004_11_17 C0029434
Osteogenesis Imperfecta C4602 National Drug File - Reference Terminology, 2004_01 C0029434
Fragilitas Ossium D010013 Medical Subject Headings, 2005_2005_01_17 C0029434
Osteogenesis Imperfecta D010013 Medical Subject Headings, 2005_2005_01_17 C0029434
Ossiums, Fragilitas D010013 Medical Subject Headings, 2005_2005_01_17 C0029434
OSTEOPSATHYROSIS NOCODE DXplain, 1994 C0029434
Osteogenesis Imperfecta NOCODE COSTAR, 1989-1995 C0029434
Osteogenesis imperfecta Q78.0 German translation of ICD10, 1995 C0029434
Osteogenesis Imperfecta T940 MedlinePlus Health Topics_2004_08_14, 20040814 C0029434
OSTEOGENESIS IMPERFECTA U001348 DXplain, 1994 C0029434
Osteopsathyrosis U005900 Library of Congress Subject Headings, 1990 C0029434

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