783065004: Autosomal recessive optic atrophy type 7 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Disorder of the central nervous system\...
• \Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Autosomal recessive optic atrophy OPA7 type
• \Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Autosomal recessive optic atrophy OPA7 type
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy\Hereditary optic atrophy\Autosomal recessive optic atrophy OPA7 type
• \Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Autosomal recessive optic atrophy OPA7 type
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Autosomal recessive optic atrophy OPA7 type
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy\Hereditary optic atrophy\Autosomal recessive optic atrophy OPA7 type
• \Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Autosomal recessive optic atrophy OPA7 type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Autosomal recessive optic atrophy OPA7 type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Autosomal recessive optic atrophy OPA7 type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Autosomal recessive optic atrophy OPA7 type
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive optic atrophy OPA7 type
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Autosomal recessive optic atrophy OPA7 type
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Autosomal recessive optic atrophy OPA7 type
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Autosomal recessive optic atrophy OPA7 type
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Autosomal recessive optic atrophy OPA7 type
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Autosomal recessive optic atrophy OPA7 type
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Autosomal recessive optic atrophy OPA7 type
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Autosomal recessive optic atrophy OPA7 type
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Autosomal recessive optic atrophy OPA7 type
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Autosomal recessive optic atrophy OPA7 type
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Autosomal recessive optic atrophy OPA7 type
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Autosomal recessive optic atrophy OPA7 type
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Autosomal recessive optic atrophy OPA7 type
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Autosomal recessive optic atrophy OPA7 type
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Autosomal recessive optic atrophy OPA7 type
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Autosomal recessive optic atrophy OPA7 type
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Autosomal recessive optic atrophy OPA7 type
• \Disease\Metabolic disease\Mitochondrial cytopathy\Autosomal recessive optic atrophy OPA7 type

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3757317014	Autosomal recessive optic atrophy OPA7 type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3757318016	Autosomal recessive optic atrophy OPA7 (optic atrophy type 7)	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3757319012	Autosomal recessive optic atrophy type 7 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3757320018	Autosomal recessive optic atrophy type 7	en	Synonym	Active	Case insensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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