733031004: Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Epilepsy, microcephaly, skeletal dysplasia syndrome

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Epilepsy, microcephaly, skeletal dysplasia syndrome

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\Epilepsy, microcephaly, skeletal dysplasia syndrome

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Epilepsy, microcephaly, skeletal dysplasia syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Epilepsy, microcephaly, skeletal dysplasia syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Epilepsy, microcephaly, skeletal dysplasia syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Epilepsy, microcephaly, skeletal dysplasia syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Epilepsy, microcephaly, skeletal dysplasia syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epilepsy, microcephaly, skeletal dysplasia syndrome

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Epilepsy, microcephaly, skeletal dysplasia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epilepsy, microcephaly, skeletal dysplasia syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3498607012 Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3498608019 Epilepsy, microcephaly, skeletal dysplasia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3498609010 Battaglia Neri syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Epilepsy, microcephaly, skeletal dysplasia syndrome	Is a	Microcephalus	false	Inferred relationship	Existential restriction modifier
Epilepsy, microcephaly, skeletal dysplasia syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Existential restriction modifier
Epilepsy, microcephaly, skeletal dysplasia syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Epilepsy, microcephaly, skeletal dysplasia syndrome	Is a	Epilepsy	true	Inferred relationship	Existential restriction modifier
Epilepsy, microcephaly, skeletal dysplasia syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Epilepsy, microcephaly, skeletal dysplasia syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Epilepsy, microcephaly, skeletal dysplasia syndrome	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Existential restriction modifier
Epilepsy, microcephaly, skeletal dysplasia syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Epilepsy, microcephaly, skeletal dysplasia syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Epilepsy, microcephaly, skeletal dysplasia syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Epilepsy, microcephaly, skeletal dysplasia syndrome	Finding site	Structure of cerebrum	true	Inferred relationship	Existential restriction modifier	4
Epilepsy, microcephaly, skeletal dysplasia syndrome	Has definitional manifestation	Seizure	false	Inferred relationship	Existential restriction modifier
Epilepsy, microcephaly, skeletal dysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Epilepsy, microcephaly, skeletal dysplasia syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	6
Epilepsy, microcephaly, skeletal dysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	6
Epilepsy, microcephaly, skeletal dysplasia syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	6
Epilepsy, microcephaly, skeletal dysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	7
Epilepsy, microcephaly, skeletal dysplasia syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier	5
Epilepsy, microcephaly, skeletal dysplasia syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	5
Epilepsy, microcephaly, skeletal dysplasia syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	7
Epilepsy, microcephaly, skeletal dysplasia syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	7
Epilepsy, microcephaly, skeletal dysplasia syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Epilepsy, microcephaly, skeletal dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Epilepsy, microcephaly, skeletal dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Epilepsy, microcephaly, skeletal dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Epilepsy, microcephaly, skeletal dysplasia syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	2
Epilepsy, microcephaly, skeletal dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Epilepsy, microcephaly, skeletal dysplasia syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Epilepsy, microcephaly, skeletal dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Epilepsy, microcephaly, skeletal dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Epilepsy, microcephaly, skeletal dysplasia syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Epilepsy, microcephaly, skeletal dysplasia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Epilepsy, microcephaly, skeletal dysplasia syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Existential restriction modifier	3
Epilepsy, microcephaly, skeletal dysplasia syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	3
Epilepsy, microcephaly, skeletal dysplasia syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Epilepsy, microcephaly, skeletal dysplasia syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Epilepsy, microcephaly, skeletal dysplasia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Epilepsy, microcephaly, skeletal dysplasia syndrome	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	3
Epilepsy, microcephaly, skeletal dysplasia syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	5
Epilepsy, microcephaly, skeletal dysplasia syndrome	Interprets	Birth head circumference	true	Inferred relationship	Existential restriction modifier	5
Epilepsy, microcephaly, skeletal dysplasia syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Existential restriction modifier
Epilepsy, microcephaly, skeletal dysplasia syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	6
Epilepsy, microcephaly, skeletal dysplasia syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6
Epilepsy, microcephaly, skeletal dysplasia syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	7
Epilepsy, microcephaly, skeletal dysplasia syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	7

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
3498607012	Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3498608019	Epilepsy, microcephaly, skeletal dysplasia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3498609010	Battaglia Neri syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module