732251003: Cortical blindness, intellectual disability, polydactyly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Cortical blindness, intellectual disability, polydactyly syndrome

\Finding of limb structure\Disorder of extremity\...

\Disorder of digit\Congenital anomaly of digit\Polydactyly\Cortical blindness, intellectual disability, polydactyly syndrome

\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Cortical blindness, intellectual disability, polydactyly syndrome
\Congenital anomaly of limb\Polymelia\Polydactyly\Cortical blindness, intellectual disability, polydactyly syndrome
\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Cortical blindness, intellectual disability, polydactyly syndrome

\Central nervous system finding\Finding of brain\Disorder of brain\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of visual pathways\Cortical blindness, intellectual disability, polydactyly syndrome

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

\Finding of brain\Disorder of brain\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Cortical blindness, intellectual disability, polydactyly syndrome
\Finding of head region\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Cortical blindness, intellectual disability, polydactyly syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Cortical blindness, intellectual disability, polydactyly syndrome
\Disorder of head\Disorder of brain\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome

\Eye / vision finding\Visual system disorder\...

\Hereditary disorder of the visual system\Cortical blindness, intellectual disability, polydactyly syndrome

\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome

\Disorder of vision\Visual disturbance\Blindness AND/OR vision impairment level\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome

\Disorder of visual pathways\Cortical blindness, intellectual disability, polydactyly syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Cortical blindness, intellectual disability, polydactyly syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Cortical blindness, intellectual disability, polydactyly syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Cortical blindness, intellectual disability, polydactyly syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of vision\Visual disturbance\Blindness AND/OR vision impairment level\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of visual pathways\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Polydactyly\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Polymelia\Polydactyly\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Disorder of head\Disorder of brain\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Polydactyly\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly\Cortical blindness, intellectual disability, polydactyly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Cortical blindness, intellectual disability, polydactyly 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

3464789019 Cortical blindness, intellectual disability, polydactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3464790011 Cortical blindness, intellectual disability, polydactyly syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cortical blindness, intellectual disability, polydactyly syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Cortical blindness, intellectual disability, polydactyly syndrome	Is a	Cortical blindness	true	Inferred relationship	Existential restriction modifier
Cortical blindness, intellectual disability, polydactyly syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Cortical blindness, intellectual disability, polydactyly syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Cortical blindness, intellectual disability, polydactyly syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Cortical blindness, intellectual disability, polydactyly syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
Cortical blindness, intellectual disability, polydactyly syndrome	Is a	Polydactyly	true	Inferred relationship	Existential restriction modifier
Cortical blindness, intellectual disability, polydactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Cortical blindness, intellectual disability, polydactyly syndrome	Finding site	Visual pathway structure	false	Inferred relationship	Existential restriction modifier	4
Cortical blindness, intellectual disability, polydactyly syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Cortical blindness, intellectual disability, polydactyly syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	6
Cortical blindness, intellectual disability, polydactyly syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	6
Cortical blindness, intellectual disability, polydactyly syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	6
Cortical blindness, intellectual disability, polydactyly syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	7
Cortical blindness, intellectual disability, polydactyly syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	4
Cortical blindness, intellectual disability, polydactyly syndrome	Associated morphology	Supernumerary structure	false	Inferred relationship	Existential restriction modifier	5
Cortical blindness, intellectual disability, polydactyly syndrome	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier	5
Cortical blindness, intellectual disability, polydactyly syndrome	Finding site	Structure of Brodmann areas 17 (striate cortex), 18 (parastriate cortex) and 19 (peristriate cortex) of the occipital lobe	false	Inferred relationship	Existential restriction modifier	7
Cortical blindness, intellectual disability, polydactyly syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Cortical blindness, intellectual disability, polydactyly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Cortical blindness, intellectual disability, polydactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Cortical blindness, intellectual disability, polydactyly syndrome	Finding site	Structure of Brodmann areas 17 (striate cortex), 18 (parastriate cortex) and 19 (peristriate cortex) of the occipital lobe	true	Inferred relationship	Existential restriction modifier	3
Cortical blindness, intellectual disability, polydactyly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Cortical blindness, intellectual disability, polydactyly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Cortical blindness, intellectual disability, polydactyly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Cortical blindness, intellectual disability, polydactyly syndrome	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier	2
Cortical blindness, intellectual disability, polydactyly syndrome	Associated morphology	Supernumerary structure	true	Inferred relationship	Existential restriction modifier	2
Cortical blindness, intellectual disability, polydactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Cortical blindness, intellectual disability, polydactyly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Cortical blindness, intellectual disability, polydactyly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	4
Cortical blindness, intellectual disability, polydactyly syndrome	Finding site	Visual pathway structure	true	Inferred relationship	Existential restriction modifier	1
Cortical blindness, intellectual disability, polydactyly syndrome	Is a	Disorder of visual pathways	true	Inferred relationship	Existential restriction modifier
Cortical blindness, intellectual disability, polydactyly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Cortical blindness, intellectual disability, polydactyly syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	5
Cortical blindness, intellectual disability, polydactyly syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5
Cortical blindness, intellectual disability, polydactyly syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	6
Cortical blindness, intellectual disability, polydactyly syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6

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
3464789019	Cortical blindness, intellectual disability, polydactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3464790011	Cortical blindness, intellectual disability, polydactyly syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module