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

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome

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

\Finding of head circumference\Macrocephaly\Congenital macrocephaly\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome

\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disorder of head\Congenital anomaly of head\Congenital macrocephaly\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Macrocephaly\Congenital macrocephaly\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\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 body system\Hereditary disorder by system\Hereditary disorder of nervous system\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital macrocephaly\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital macrocephaly\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital macrocephaly\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Megalencephaly, severe kyphoscoliosis, overgrowth syndrome

Status: current, Primitive. Date: 31-Dec 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5159439011 Megalencephaly, severe kyphoscoliosis, overgrowth syndrome en Synonym Active Case insensitive SNOMED CT core

5159440013 Megalencephaly, severe kyphoscoliosis, overgrowth syndrome (disorder) en Fully specified name Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Is a	Congenital macrocephaly	true	Inferred relationship	Some
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Is a	Global developmental delay	true	Inferred relationship	Some
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Is a	Multiple malformation syndrome with early overgrowth	true	Inferred relationship	Some
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Is a	Macroencephaly	true	Inferred relationship	Some
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	3
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Interprets	Head circumference	true	Inferred relationship	Some	5
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Has interpretation	Above reference range	true	Inferred relationship	Some	5
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Finding site	Structure of cerebrum	true	Inferred relationship	Some	1
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Associated morphology	Enlargement	true	Inferred relationship	Some	1
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships

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Reference Sets

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Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5159439011	Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5159440013	Megalencephaly, severe kyphoscoliosis, overgrowth syndrome (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	SNOMED CT core