1254650002: Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome

\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Leukoencephalopathy\Congenital malformation of corpus callosum\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism 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\Congenital malformation of corpus callosum\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Leukoencephalopathy\Congenital malformation of corpus callosum\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome

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

\Finding of brain\Disorder of brain\...

\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome

\Leukoencephalopathy\Congenital malformation of corpus callosum\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Finding of head region\Leukoencephalopathy\Congenital malformation of corpus callosum\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disorder of head\Disorder of brain\Leukoencephalopathy\Congenital malformation of corpus callosum\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Leukoencephalopathy\Congenital malformation of corpus callosum\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disease\Disorder of head\Disorder of brain\Leukoencephalopathy\Congenital malformation of corpus callosum\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital malformation of corpus callosum\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
\Disease\Developmental disorder\Developmental delay\Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Oct 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5142869015 Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

5142870019 Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome	Is a	Congenital malformation of corpus callosum	true	Inferred relationship	Existential restriction modifier
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome	Is a	Developmental delay	true	Inferred relationship	Existential restriction modifier
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	3
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	4
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome	Finding site	Corpus callosum structure	true	Inferred relationship	Existential restriction modifier	1
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5142869015	Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
5142870019	Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module