1187042007: Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \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\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Neurological finding\Seizure related finding\convulsion\trouble convulsif\Epilepsy\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \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\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay 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\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Disease\trouble du développement\retard de développement\Global developmental delay\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome

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
4669051015	Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4669052010	Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4669050019	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of variable developmental delay, intellectual disability, early-onset seizures and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, large ears, thin upper lip and high arched palate). Other reported features are microcephaly, hypotonia, growth retardation, congenital heart defects and malformations of the fingers and toes, as well as additional neurologic manifestations (such as ataxia or spastic quadriplegia). Brain imaging may show hypoplastic corpus callosum, white matter abnormalities or cortical atrophy.	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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