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

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour 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\Encephalopathy\Seizure disorder\Epilepsy\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\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\Encephalopathy\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\Encephalopathy\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\Intellectual ability - finding\Intellectual disability\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\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\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\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\Neurological disorder\Hereditary disorder of nervous system\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\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\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\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\Encephalopathy\Seizure disorder\Epilepsy\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital anomaly of head\Congenital microcephaly\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\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 anomaly\Congenital anomaly of head\Congenital microcephaly\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\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 anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epilepsy, microcephaly, skeletal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epilepsy, microcephaly, skeletal dysplasia syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3498607012 Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3498608019 Epilepsy, microcephaly, skeletal dysplasia syndrome en Synonym Active Case insensitive SNOMED CT core

3498609010 Battaglia Neri syndrome en Synonym Active Case sensitive SNOMED CT core

3499937011 Syndrome with the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two siblings (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3498607012	Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3498608019	Epilepsy, microcephaly, skeletal dysplasia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3498609010	Battaglia Neri syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3499937011	Syndrome with the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two siblings (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children.	en	Definition	Active	Case sensitive	SNOMED CT core