1187250005: Seizures, scoliosis, macrocephaly syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\déformation de la colonne vertébrale\Curvature of spine\déformation scoliotique de la colonne vertébrale\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Curvature of spine\déformation scoliotique de la colonne vertébrale\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \constatation à propos du dos\Finding of spinal region\déformation de la colonne vertébrale\Curvature of spine\déformation scoliotique de la colonne vertébrale\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Curvature of spine\déformation scoliotique de la colonne vertébrale\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Macrocephaly (finding)\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\trouble convulsif\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Macrocephaly (finding)\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \déformation scoliotique de la colonne vertébrale\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \Neurological finding\Seizure related finding\convulsion\trouble convulsif\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Seizures, scoliosis, macrocephaly 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\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\déformation scoliotique de la colonne vertébrale\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \Disease\trouble métabolique\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \Disease\trouble métabolique\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Carbohydrate-deficient glycoprotein syndrome\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \Disease\affection du dos\Disorder of spinal region (disorder)\Curvature of spine\déformation scoliotique de la colonne vertébrale\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Seizures, scoliosis, macrocephaly syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Seizures, scoliosis, macrocephaly syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4672931017	SSM (seizures, scoliosis, macrocephaly) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4672932012	Seizures, scoliosis, macrocephaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4672933019	Seizures, scoliosis, macrocephaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4672934013	A rare genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4672935014	A rare genetic neurometabolic disorder characterised by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhoea, gastro-oesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start