720855003: Cerebrooculonasal syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Cerebrooculonasal syndrome

\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Cerebrooculonasal syndrome

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

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cerebrooculonasal syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cerebrooculonasal syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cerebrooculonasal syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Cerebrooculonasal syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Cerebrooculonasal syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Cerebrooculonasal syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Cerebrooculonasal syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cerebrooculonasal syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cerebrooculonasal syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Cerebrooculonasal syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Cerebrooculonasal syndrome
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Cerebrooculonasal syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Cerebrooculonasal syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cerebrooculonasal syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cerebrooculonasal syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Cerebrooculonasal syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Cerebrooculonasal syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cerebrooculonasal syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Cerebrooculonasal syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Cerebrooculonasal syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Cerebrooculonasal syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Cerebrooculonasal syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cerebrooculonasal syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3322302010 Cerebrooculonasal syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3322303017 Cerebrooculonasal syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3322304011 Cerebro-oculo-nasal syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cerebrooculonasal syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Cerebrooculonasal syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Cerebrooculonasal syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Cerebrooculonasal syndrome	Is a	Congenital anomaly of central nervous system	true	Inferred relationship	Existential restriction modifier
Cerebrooculonasal syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Cerebrooculonasal syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Cerebrooculonasal syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Cerebrooculonasal syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Cerebrooculonasal syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Cerebrooculonasal syndrome	Finding site	Structure of central nervous system	true	Inferred relationship	Existential restriction modifier	2
Cerebrooculonasal syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	3
Cerebrooculonasal syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Cerebrooculonasal syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Cerebrooculonasal syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Cerebrooculonasal syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Cerebrooculonasal syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Cerebrooculonasal syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Cerebrooculonasal syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Cerebrooculonasal syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Cerebrooculonasal syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	3
Cerebrooculonasal syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3
Cerebrooculonasal syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	4
Cerebrooculonasal syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3322302010	Cerebrooculonasal syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3322303017	Cerebrooculonasal syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3322304011	Cerebro-oculo-nasal syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module