720010009: Microphthalmia with brain atrophy syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Microphthalmia with brain atrophy syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Seizure disorder\Microphthalmia with brain atrophy syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Chronic brain syndrome (disorder)\Microphthalmia with brain atrophy syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Degenerative brain disorder\Microphthalmia with brain atrophy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Microphthalmia with brain atrophy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Microphthalmia with brain atrophy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Microphthalmia with brain atrophy syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Severe mental retardation (I.Q. 20-34)\Microphthalmia with brain atrophy syndrome (disorder)
• \General finding of soft tissue\Spasticity\Microphthalmia with brain atrophy syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Microphthalmia with brain atrophy syndrome (disorder)
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Microphthalmia with brain atrophy syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Microphthalmia with brain atrophy syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Chronic brain syndrome (disorder)\Microphthalmia with brain atrophy syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Microphthalmia with brain atrophy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Microphthalmia with brain atrophy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Microphthalmia with brain atrophy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Microphthalmia with brain atrophy syndrome (disorder)
• \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\Microphthalmia with brain atrophy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Microphthalmia with brain atrophy syndrome (disorder)
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Microphthalmia with brain atrophy syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital blindness\Microphthalmia with brain atrophy syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of vision (disorder)\Visual disturbance (disorder)\Blindness AND/OR vision impairment level\Congenital blindness\Microphthalmia with brain atrophy syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Severe mental retardation (I.Q. 20-34)\Microphthalmia with brain atrophy syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Severe mental retardation (I.Q. 20-34)\Microphthalmia with brain atrophy syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Severe mental retardation (I.Q. 20-34)\Microphthalmia with brain atrophy syndrome (disorder)
• \Muscle finding (finding)\Finding of muscle tone (finding)\Increased muscle tone\Spasticity\Microphthalmia with brain atrophy syndrome (disorder)
• \Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Microphthalmia with brain atrophy syndrome (disorder)
• \Musculoskeletal finding (finding)\Spasticity\Microphthalmia with brain atrophy syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Microphthalmia with brain atrophy syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Microphthalmia with brain atrophy syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Microphthalmia with brain atrophy syndrome (disorder)
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital blindness\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital blindness\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of vision (disorder)\Visual disturbance (disorder)\Blindness AND/OR vision impairment level\Congenital blindness\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome (disorder)\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of body system\Disease 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\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome (disorder)\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Severe mental retardation (I.Q. 20-34)\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital blindness\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3318852018	Microphthalmia with brain atrophy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318853011	Microphthalmia with brain atrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318854017	Syndromic microphthalmia type 10	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5308105019	MOBA syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402304017	A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402305016	A rare genetic neurodegenerative disorder characterised by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318852018	Microphthalmia with brain atrophy syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3318852018	Microphthalmia with brain atrophy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318853011	Microphthalmia with brain atrophy syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3318853011	Microphthalmia with brain atrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3318854017	Syndromic microphthalmia type 10	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3318854017	Syndromic microphthalmia type 10	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5308105019	MOBA syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318855016	Syndrome with characteristics of congenital microphthalmia and blindness, progressive spasticity, microcephaly, seizures and profound intellectual deficit. It has been reported in three children from three unrelated families. While imaging at birth is normal, follow-up studies show progressive atrophy involving the cerebral white matter and cortex, cerebellum, brainstem, and corpus callosum. The white matter changes extend into the subcortical region, leaving only small islands of remaining cortical tissue.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402304017	A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402305016	A rare genetic neurodegenerative disorder characterised by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3388921001000114	Mikrophthalmie-Hirnatrophie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3388921001000114	Mikrophthalmie-Hirnatrophie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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