719466009: Cleft palate with short stature and vertebral anomaly syndrome (disorder)

• 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\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\affection du rachis\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \constatation à propos du dos\Finding of spinal region\Vertebral column finding\affection du rachis\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\affection du rachis\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \constatation à propos du dos\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Orofacial cleft (disorder)\fente palatine\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \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\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Finding of head region\Palate finding\Disorder of palate (disorder)\Congenital anomaly of palate\fente palatine\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \affection de la tête\Disorder of palate (disorder)\Congenital anomaly of palate\fente palatine\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\fente palatine\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of palate\fente palatine\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Musculoskeletal finding\Vertebral column finding\affection du rachis\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du rachis\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\affection du rachis\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\affection de la tête\Disorder of palate (disorder)\Congenital anomaly of palate\fente palatine\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\fente palatine\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of palate\fente palatine\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\fente palatine\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\fente palatine\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\affection du dos\Disorder of spinal region (disorder)\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\affection du dos\Disorder of spinal region (disorder)\affection du rachis\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\affection du dos\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\fente palatine\Cleft palate with short stature and vertebral anomaly syndrome (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\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\fente palatine\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Cleft palate with short stature and vertebral anomaly syndrome (disorder)
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Cleft palate with short stature and vertebral anomaly syndrome (disorder)

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
3316450012	Cleft palate with short stature and vertebral anomaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316451011	Cleft palate with short stature and vertebral anomaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316452016	Mathieu De Broca Bony syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3316453014	A multiple congenital anomalies syndrome described in a father and son with the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993.	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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