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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Head finding (finding)\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
• \Head finding (finding)\Disorder of head (disorder)\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
• \Head finding (finding)\Disorder of head (disorder)\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
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Disease\Disorder of head (disorder)\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\Disorder of head (disorder)\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\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
• \Disease\Developmental disorder\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\Developmental disorder\Developmental delay\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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