733031004: Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Epilepsy, microcephaly, skeletal dysplasia 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\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Epilepsy, microcephaly, skeletal dysplasia syndrome (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\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Neurological finding\Seizure related finding\convulsion\trouble convulsif\Epilepsy\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Epilepsy, microcephaly, skeletal dysplasia syndrome (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\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epilepsy, microcephaly, skeletal dysplasia 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\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Epilepsy, microcephaly, skeletal dysplasia 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\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Epilepsy, microcephaly, skeletal dysplasia 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\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Epilepsy, microcephaly, skeletal dysplasia 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\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Epilepsy, microcephaly, skeletal dysplasia 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\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3498607012	Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498608019	Epilepsy, microcephaly, skeletal dysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498609010	Battaglia Neri syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499937011	Syndrome with the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two siblings (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children.	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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