720010009: Microphthalmia with brain atrophy syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Encephalopathy\Degenerative brain disorder\Microphthalmia with brain atrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Microphthalmia with brain atrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Microphthalmia with brain atrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Microphthalmia with brain atrophy syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Degenerative brain disorder\Microphthalmia with brain atrophy syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome
• \Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome
• \Disorder of head\Encephalopathy\Degenerative brain disorder\Microphthalmia with brain atrophy syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Microphthalmia with brain atrophy syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Microphthalmia with brain atrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Microphthalmia with brain atrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microphthalmia with brain atrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microphthalmia with brain atrophy syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Microphthalmia with brain atrophy syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Microphthalmia with brain atrophy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Microphthalmia with brain atrophy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Microphthalmia with brain atrophy syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Microphthalmia with brain atrophy syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Microphthalmia with brain atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Microphthalmia with brain atrophy syndrome
• \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\Microphthalmia with brain atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Microphthalmia with brain atrophy syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome
• \Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Microphthalmia with brain atrophy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Microphthalmia with brain atrophy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmia with brain atrophy syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3318853011	Microphthalmia with brain atrophy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3318854017	Syndromic microphthalmia type 10	en	Synonym	Active	Case insensitive	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	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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