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68574006: Cortical blindness (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness
\Head finding (finding)\Finding of head region\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness

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

\Disorder of visual cortex\Cortical blindness

\Disorder of vision\Visual disturbance\Blindness AND/OR vision impairment level\Cortical blindness

\Disease\Disorder of body system\Visual system disorder\Disorder of visual cortex\Cortical blindness
\Disease\Disorder of body system\Visual system disorder\Disorder of vision\Visual disturbance\Blindness AND/OR vision impairment level\Cortical blindness
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

113901010 Cortical blindness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

808424010 Cortical blindness (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1816751000005110 Kortikal blindhed da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cortical blindness	Is a	Vision problem	false	Inferred relationship	Some
Cortical blindness	Is a	Disorder of visual cortex	true	Inferred relationship	Some
Cortical blindness	Finding site	Cranial nerve structure	false	Inferred relationship	Some
Cortical blindness	Finding site	Area striata structure	false	Inferred relationship	Some
Cortical blindness	Finding site	Eye structure	false	Inferred relationship	Some
Cortical blindness	Finding site	Visual area of cortex	false	Inferred relationship	Some
Cortical blindness	Is a	Finding of brain	false	Inferred relationship	Some
Cortical blindness	Is a	Blindness AND/OR vision impairment level	true	Inferred relationship	Some
Cortical blindness	Finding site	Structure of Brodmann areas 17 (striate cortex), 18 (parastriate cortex) and 19 (peristriate cortex) of the occipital lobe (body structure)	true	Inferred relationship	Some	1
Cortical blindness	Has interpretation	Impaired	false	Inferred relationship	Some	1
Cortical blindness	Has interpretation	Abnormal	false	Inferred relationship	Some	2
Cortical blindness	Interprets	Visual function	false	Inferred relationship	Some	2
Cortical blindness	Interprets	Visual function	false	Inferred relationship	Some	1
Cortical blindness	Finding site	Visual pathway structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cortical blindness of left side of brain	Is a	True	Cortical blindness	Inferred relationship	Some
Cortical blindness of right side of brain	Is a	True	Cortical blindness	Inferred relationship	Some
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (including prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985.	Is a	True	Cortical blindness	Inferred relationship	Some
A rare syndromic intellectual disability syndrome with characteristics of cortical blindness, different types of seizures, intellectual disability with limited or absent speech and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region. There is evidence the disease is caused by compound heterozygous mutation in the DOCK7 gene on chromosome 1p31.	Is a	True	Cortical blindness	Inferred relationship	Some
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.	Is a	True	Cortical blindness	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
113901010	Cortical blindness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
808424010	Cortical blindness (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1816751000005110	Kortikal blindhed	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)