763830009: dysostose oculo-maxillo-faciale (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Oculomaxillofacial dysostosis (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Oculomaxillofacial dysostosis (disorder)
• \Skull finding\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \affection de la tête\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Oculomaxillofacial dysostosis (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Oculomaxillofacial dysostosis (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Oculomaxillofacial dysostosis (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Skull finding\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Disease\affection de la tête\Disorder of skull (disorder)\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Oculomaxillofacial dysostosis (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Oculomaxillofacial dysostosis (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Oculomaxillofacial dysostosis (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Oculomaxillofacial dysostosis (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Oculomaxillofacial dysostosis (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Oculomaxillofacial dysostosis (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\anomalie congénitale des os du crâne et du visage\anomalie congénitale du crâne (trouble)\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Oculomaxillofacial dysostosis (disorder)
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Oculomaxillofacial dysostosis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3644152011	Oculomaxillofacial dysostosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3644153018	Richieri Costa Gorlin syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3644154012	Oculomaxillofacial dysostosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
766631000241116	dysostose oculo-maxillo-faciale (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
897781000172117	syndrome de Richieri Costa-Gorlin	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
960881000172118	dysostose oculo-maxillo-faciale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3644155013	A rare genetic bone developmental disorder with characteristics of short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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