1260143005: Megalencephaly, severe kyphoscoliosis, overgrowth syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference (finding)\Macrocephaly (finding)\Congenital macrocephaly\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, severe kyphoscoliosis, overgrowth 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\Megalencephaly, severe kyphoscoliosis, overgrowth 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\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly\Megalencephaly, severe kyphoscoliosis, overgrowth 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\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Body measurement finding\Finding of head circumference (finding)\Macrocephaly (finding)\Congenital macrocephaly\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
• \Disease\Developmental disorder (disorder)\Developmental delay\Global developmental delay\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Dec 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5159439011	Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5159440013	Megalencephaly, severe kyphoscoliosis, overgrowth syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5400416015	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by overgrowth and macrocephaly with megalencephaly apparent at birth, global developmental delay, intellectual disability, and dysmorphic facial features (including frontal bossing, long face, sparse eyebrows, hypertelorism, downslanting palpebral fissures, and prognathism). Patients may exhibit tall stature with dolichostenomelia, arachnodactyly, kyphoscoliosis, and joint laxity, as well as neurologic manifestations, such as hypotonia, gait ataxia, or seizures. Brain imaging may show increased white matter volume, thick corpus callosum, or small cerebellum.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400417012	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by overgrowth and macrocephaly with megalencephaly apparent at birth, global developmental delay, intellectual disability, and dysmorphic facial features (including frontal bossing, long face, sparse eyebrows, hypertelorism, downslanting palpebral fissures, and prognathism). Patients may exhibit tall stature with dolichostenomelia, arachnodactyly, kyphoscoliosis, and joint laxity, as well as neurologic manifestations, such as hypotonia, gait ataxia, or seizures. Brain imaging may show increased white matter volume, thick corpus callosum, or small cerebellum.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5159439011	Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5159440013	Megalencephaly, severe kyphoscoliosis, overgrowth syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5159443010	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of overgrowth and macrocephaly with megalencephaly apparent at birth, global developmental delay, intellectual disability and dysmorphic facial features (including frontal bossing, long face, sparse eyebrows, hypertelorism, downslanting palpebral fissures, and prognathism). Patients may exhibit tall stature with dolichostenomelia, arachnodactyly, kyphoscoliosis and joint laxity, as well as neurologic manifestations, such as hypotonia, gait ataxia, or seizures. Brain imaging may show increased white matter volume, thick corpus callosum or small cerebellum.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400416015	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by overgrowth and macrocephaly with megalencephaly apparent at birth, global developmental delay, intellectual disability, and dysmorphic facial features (including frontal bossing, long face, sparse eyebrows, hypertelorism, downslanting palpebral fissures, and prognathism). Patients may exhibit tall stature with dolichostenomelia, arachnodactyly, kyphoscoliosis, and joint laxity, as well as neurologic manifestations, such as hypotonia, gait ataxia, or seizures. Brain imaging may show increased white matter volume, thick corpus callosum, or small cerebellum.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400417012	A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by overgrowth and macrocephaly with megalencephaly apparent at birth, global developmental delay, intellectual disability, and dysmorphic facial features (including frontal bossing, long face, sparse eyebrows, hypertelorism, downslanting palpebral fissures, and prognathism). Patients may exhibit tall stature with dolichostenomelia, arachnodactyly, kyphoscoliosis, and joint laxity, as well as neurologic manifestations, such as hypotonia, gait ataxia, or seizures. Brain imaging may show increased white matter volume, thick corpus callosum, or small cerebellum.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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