783065004: Autosomal recessive optic atrophy type 7 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Central nervous system finding\Disorder of the central nervous system (disorder)\...
• \Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system (disorder)\Hereditary optic atrophy\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
• \Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy\Hereditary optic atrophy\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
• \Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy\Hereditary optic atrophy\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
• \Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system (disorder)\Hereditary optic atrophy\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system (disorder)\Hereditary optic atrophy\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system (disorder)\Hereditary optic atrophy\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder (disorder)\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system (disorder)\Hereditary optic atrophy\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system (disorder)\Hereditary optic atrophy\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.
• \Disease\Metabolic disease\Mitochondrial cytopathy\A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3757321019	A rare syndromic hereditary optic neuropathy disorder with characteristics of early-onset severe progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (for example mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and occasionally moderate hypertrophic cardiomyopathy. There is evidence the disease is caused by homozygous mutation in the TMEM126A gene on chromosome 11q1.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3757317014	Autosomal recessive optic atrophy OPA7 type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3757318016	Autosomal recessive optic atrophy OPA7 (optic atrophy type 7)	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3757319012	Autosomal recessive optic atrophy type 7 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3757320018	Autosomal recessive optic atrophy type 7	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

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