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

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
\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\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
\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\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
\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\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)

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

\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)

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

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3498608019 Epilepsy, microcephaly, skeletal dysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498609010 Battaglia Neri syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403677012 A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403678019 A rare multiple congenital anomalies/dysmorphic syndrome characterised by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3498607012	Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498608019	Epilepsy, microcephaly, skeletal dysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498609010	Battaglia Neri syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403677012	A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403678019	A rare multiple congenital anomalies/dysmorphic syndrome characterised by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core