1187250005: Seizures, scoliosis, macrocephaly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of spine\Curvature of spine\Scoliosis deformity of spine\Seizures, scoliosis, macrocephaly syndrome

\Finding of back\Finding of spinal region\Disorder of spinal region\Curvature of spine\Scoliosis deformity of spine\Seizures, scoliosis, macrocephaly syndrome
\Finding of back\Finding of spinal region\Deformity of spine\Curvature of spine\Scoliosis deformity of spine\Seizures, scoliosis, macrocephaly syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Curvature of spine\Scoliosis deformity of spine\Seizures, scoliosis, macrocephaly syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Seizures, scoliosis, macrocephaly syndrome

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Seizures, scoliosis, macrocephaly syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Seizures, scoliosis, macrocephaly syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Seizures, scoliosis, macrocephaly syndrome

\Finding of head and neck region\Head finding\...

\Finding of head circumference\Macrocephaly\Seizures, scoliosis, macrocephaly syndrome

\Finding of brain\Seizure\Seizure disorder\Seizures, scoliosis, macrocephaly syndrome
\Finding of brain\Encephalopathy\Seizure disorder\Seizures, scoliosis, macrocephaly syndrome

\Disorder of head\Encephalopathy\Seizure disorder\Seizures, scoliosis, macrocephaly syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Seizures, scoliosis, macrocephaly syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Seizures, scoliosis, macrocephaly syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Seizures, scoliosis, macrocephaly syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Macrocephaly\Seizures, scoliosis, macrocephaly syndrome

\Musculoskeletal finding\Musculoskeletal disorder\...

\Hereditary disorder of musculoskeletal system\Seizures, scoliosis, macrocephaly syndrome

\Scoliosis deformity of spine\Seizures, scoliosis, macrocephaly syndrome

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Seizures, scoliosis, macrocephaly syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Seizures, scoliosis, macrocephaly syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Seizures, scoliosis, macrocephaly syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Seizures, scoliosis, macrocephaly syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Seizures, scoliosis, macrocephaly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Seizures, scoliosis, macrocephaly syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Seizures, scoliosis, macrocephaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Seizures, scoliosis, macrocephaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Seizures, scoliosis, macrocephaly syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Seizures, scoliosis, macrocephaly syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Seizures, scoliosis, macrocephaly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Seizures, scoliosis, macrocephaly syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Scoliosis deformity of spine\Seizures, scoliosis, macrocephaly syndrome
\Disease\Disorder of head\Encephalopathy\Seizure disorder\Seizures, scoliosis, macrocephaly syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Seizures, scoliosis, macrocephaly syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Seizures, scoliosis, macrocephaly syndrome
\Disease\Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Carbohydrate deficient glycoprotein syndrome\Seizures, scoliosis, macrocephaly syndrome
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Seizures, scoliosis, macrocephaly syndrome
\Disease\Disorder of back\Disorder of spinal region\Curvature of spine\Scoliosis deformity of spine\Seizures, scoliosis, macrocephaly syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Seizures, scoliosis, macrocephaly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Seizures, scoliosis, macrocephaly syndrome

Status: current, Primitive. Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4672931017 SSM (seizures, scoliosis, macrocephaly) syndrome en Synonym Active Case sensitive SNOMED CT core

4672932012 Seizures, scoliosis, macrocephaly syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4672933019 Seizures, scoliosis, macrocephaly syndrome en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Seizures, scoliosis, macrocephaly syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Seizures, scoliosis, macrocephaly syndrome	Is a	Macrocephaly	true	Inferred relationship	Some
Seizures, scoliosis, macrocephaly syndrome	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Seizures, scoliosis, macrocephaly syndrome	Is a	Seizure disorder	true	Inferred relationship	Some
Seizures, scoliosis, macrocephaly syndrome	Is a	Carbohydrate deficient glycoprotein syndrome	true	Inferred relationship	Some
Seizures, scoliosis, macrocephaly syndrome	Is a	Scoliosis deformity of spine	true	Inferred relationship	Some
Seizures, scoliosis, macrocephaly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Seizures, scoliosis, macrocephaly syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Seizures, scoliosis, macrocephaly syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Seizures, scoliosis, macrocephaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
Seizures, scoliosis, macrocephaly syndrome	Finding site	Brain structure	true	Inferred relationship	Some	3
Seizures, scoliosis, macrocephaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Seizures, scoliosis, macrocephaly syndrome	Interprets	Head circumference	true	Inferred relationship	Some	2
Seizures, scoliosis, macrocephaly syndrome	Has interpretation	Above reference range	true	Inferred relationship	Some	2
Seizures, scoliosis, macrocephaly syndrome	Finding site	Musculoskeletal structure of spine	true	Inferred relationship	Some	1
Seizures, scoliosis, macrocephaly syndrome	Associated morphology	Lateral abnormal curvature	true	Inferred relationship	Some	1
Seizures, scoliosis, macrocephaly syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	6
Seizures, scoliosis, macrocephaly syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Seizures, scoliosis, macrocephaly syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	7
Seizures, scoliosis, macrocephaly syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	7

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4672931017	SSM (seizures, scoliosis, macrocephaly) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4672932012	Seizures, scoliosis, macrocephaly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4672933019	Seizures, scoliosis, macrocephaly syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core