719097002: syndrome branchiosquelettogénital (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\BSG syndrome
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\affection du rachis\BSG syndrome
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Disorder of cervical spine\BSG syndrome
• \constatation à propos du dos\Finding of spinal region\Vertebral column finding\affection du rachis\BSG syndrome
• \constatation à propos du dos\Finding of spinal region\Finding of cervical spine\Disorder of cervical spine\BSG syndrome
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\BSG syndrome
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\affection du rachis\BSG syndrome
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Disorder of cervical spine\BSG syndrome
• \constatation à propos du dos\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\BSG syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\BSG syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\BSG syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\BSG syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\BSG syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\BSG syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\BSG syndrome
• \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\BSG syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\BSG syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\BSG syndrome
• \constatation à propos d'une région de la tête et du cou\Finding of neck region\affection du cou\Disorder of cervical spine\BSG syndrome
• \constatation à propos d'une région de la tête et du cou\Finding of neck region\affection du cou\Musculoskeletal disorder of the neck\BSG syndrome
• \constatation à propos d'une région de la tête et du cou\Finding of neck region\affection du cou\anomalie congénitale du cou\BSG syndrome
• \constatation à propos d'une région de la tête et du cou\Finding of neck region\Finding of cervical spine\Disorder of cervical spine\BSG syndrome
• \Musculoskeletal finding\Vertebral column finding\affection du rachis\BSG syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\BSG syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Musculoskeletal disorder of the neck\BSG syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du rachis\BSG syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\BSG syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\BSG syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\BSG syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\BSG syndrome
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\BSG syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\BSG syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Musculoskeletal disorder of the neck\BSG syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du rachis\BSG syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\BSG syndrome
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\BSG syndrome
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\BSG syndrome
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\BSG syndrome
• \Disease\affection du cou\Disorder of cervical spine\BSG syndrome
• \Disease\affection du cou\Musculoskeletal disorder of the neck\BSG syndrome
• \Disease\affection du cou\anomalie congénitale du cou\BSG syndrome
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\BSG syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\BSG syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\BSG syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\BSG syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\BSG syndrome
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\BSG syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\BSG syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\BSG syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\BSG syndrome
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale du cou\BSG syndrome
• \Disease\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\BSG syndrome
• \Disease\affection du dos\Disorder of spinal region (disorder)\affection du rachis\BSG syndrome
• \Disease\affection du dos\Disorder of spinal region (disorder)\Disorder of cervical spine\BSG syndrome
• \Disease\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\BSG syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\BSG syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\BSG syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\BSG syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\BSG syndrome
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\BSG syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\BSG syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\BSG syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\BSG syndrome
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale du cou\BSG syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3314975017	BSG syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318036015	Branchio-skeleto-genital syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318037012	Branchioskeletogenital syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318038019	Branchioskeletogenital syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
753531000241119	syndrome branchiosquelettogénital (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
878571000172116	syndrome branchiosquelettogénital	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
897251000172118	syndrome BSG (branchiosquelettogénital)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3318039010	An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family. The syndrome has characteristics of intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971.	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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