1172900005: Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Chronic brain syndrome\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \constatation à propos l'encéphale\Disorder of brain (disorder)\...
• \Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Chronic brain syndrome\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Finding of head region\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \affection de la tête\Disorder of brain (disorder)\...
• \Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Chronic brain syndrome\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\...
• \Hereditary disorder of the visual system\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disorder of visual cortex\Cortical blindness\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disorder of vision\Visual disturbance\Blindness AND/OR vision impairment level\Cortical blindness\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual cortex\Cortical blindness\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of vision\Visual disturbance\Blindness AND/OR vision impairment level\Cortical blindness\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Chronic brain syndrome\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\Disorder of cerebral cortex\Disorder of visual cortex\Cortical blindness\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\Chronic brain syndrome\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\maladie chronique\trouble neurologique chronique\Chronic brain syndrome\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4636398011	Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4636399015	Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4636402019	A rare genetic neuro-ophthalmological syndrome with characteristics of postnatal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalised hypotonia and pulmonary complications such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4636403012	A rare genetic neuro-ophthalmological syndrome with characteristics of postnatal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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