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Terminology chevron_right Concepts chevron_right 312942003

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Component

312942003

The component that hold information about this concept.

Fully Specified Name (FSN)

Inherited optic neuropathy (disorder)

Shortest Term

Inherited optic neuropathy

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Inherited optic neuropathy (disorder)

SCTID: 312942003, Defined, Active

312942003|Inherited optic neuropathy (disorder)|

en Inherited optic neuropathy
en Inherited optic neuropathy (disorder)

Expression

312942003 |Inherited optic neuropathy (disorder)|
 === 77157004 |Disorder of optic nerve (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| : 
        { 363698007 |Finding site (attribute)| = 18234004 |Optic nerve structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
456757015 - Inherited optic neuropathy (en) View
456757015	en	Synonym (core metadata concept)	Inherited optic neuropathy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
709669019 - Inherited optic neuropathy (disorder) (en) View
709669019	en	Fully specified name (core metadata concept)	Inherited optic neuropathy (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (12078972028) - 312942003 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12078973022) - 312942003 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (675875024) - 312942003 -> 18234004 (363698007) View
363698007 \|Finding site (attribute)\|	18234004 \|Optic nerve structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (140503024) - 312942003 -> 312964007 (116680003) View
116680003 \|Is a (attribute)\|	312964007 \|Optic neuropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2839481029) - 312942003 -> 77157004 (116680003) View
116680003 \|Is a (attribute)\|	77157004 \|Disorder of optic nerve (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
77157004 View
77157004	Disorder of optic nerve (disorder)	Optic neuropathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363235000 View
363235000	Hereditary disorder of nervous system (disorder)	Hereditary disorder of nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363343008 View
363343008	Hereditary disorder of the visual system (disorder)	Hereditary disorder of the visual system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
718221007 View
718221007	Behr syndrome (disorder)	Behr syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1332382002 View
1332382002	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)	Commad syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1237618009 View
1237618009	Short stature, optic nerve atrophy, pelger-huët anomaly syndrome (disorder)	Short stature, optic nerve atrophy, pelger-huët anomaly syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1222649004 View
1222649004	Auditory neuropathy, optic atrophy syndrome (disorder)	Auditory neuropathy, optic atrophy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1222655009 View
1222655009	Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)	Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1217367007 View
1217367007	Phospholipase a2 activating protein-associated neurodevelopmental disorder (disorder)	Plaa-associated neurodevelopmental disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1208621008 View
1208621008	Multiple mitochondrial dysfunctions syndrome type 4 (disorder)	Multiple mitochondrial dysfunctions syndrome type 4	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1197151003 View
1197151003	Autosomal recessive isolated optic atrophy (disorder)	Autosomal recessive isolated optic atrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1197357008 View
1197357008	Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome (disorder)	Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1197365006 View
1197365006	Familial cavitary optic disc anomaly (disorder)	Familial cavitary optic disc anomaly	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1179296003 View
1179296003	Colobomatous macrophthalmia with microcornea syndrome (disorder)	Colobomatous macrophthalmia with microcornea syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1172586007 View
1172586007	Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder)	Harel yoon syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1172692006 View
1172692006	X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome (disorder)	X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
784347002 View
784347002	Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome (disorder)	Autosomal recessive spastic ataxia type 4	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
770625006 View
770625006	Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)	Roifman chitayat syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771336003 View
771336003	Polymicrogyria with optic nerve hypoplasia (disorder)	Polymicrogyria with optic nerve hypoplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771471002 View
771471002	Optic nerve edema, splenomegaly syndrome (disorder)	Optic nerve edema, splenomegaly syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
778021002 View
778021002	Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome (disorder)	Nanophthalmos, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723622007 View
723622007	X-linked spastic paraplegia type 2 (disorder)	Spastic gait type 2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
726031001 View
726031001	Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Camos syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720410001 View
720410001	Acrootoocular syndrome (disorder)	Acrootoocular syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720634003 View
720634003	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder)	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721843003 View
721843003	Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder)	Gapo syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722213009 View
722213009	Severe x-linked intellectual disability gustavson type (disorder)	Severe x-linked intellectual disability gustavson type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
442511009 View
442511009	Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome (disorder)	Peho syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
26360005 View
26360005	Hereditary optic atrophy (disorder)	Hereditary optic atrophy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
70694009 View
70694009	Diabetes mellitus and insipidus with optic atrophy and deafness (disorder)	Wolfram syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (69f844d7-3644-5951-bdd1-2b0e2f53e9bd) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	H46	TRUE	ALWAYS H46	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

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