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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference (finding)\Microcephaly (finding)\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical blindness\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain\Chronic brain syndrome (disorder)\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Head finding (finding)\Finding of head region\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical blindness\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical blindness\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Body measurement finding\Finding of head circumference (finding)\Microcephaly (finding)\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical blindness\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Chronic brain syndrome (disorder)\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical blindness\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system (disorder)\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 (disorder)\Visual disturbance (disorder)\Blindness AND/OR vision impairment level\Cortical blindness\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual cortex\Cortical blindness\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of vision (disorder)\Visual disturbance (disorder)\Blindness AND/OR vision impairment level\Cortical blindness\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome (disorder)\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical blindness\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Disorder of cerebral cortex (disorder)\Disorder of visual cortex\Cortical blindness\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome (disorder)\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
• \Disease\Developmental disorder (disorder)\Developmental delay\Global developmental delay\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
5399430018	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, 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
5399431019	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterised by post-natal, 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
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
5399430018	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, 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
5399431019	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterised by post-natal, 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
3424121001000118	Progressive Mikrozephalie-Krämpfe-Kortikale Blindheit-Entwicklungsverzögerung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3424121001000118	Progressive Mikrozephalie-Krämpfe-Kortikale Blindheit-Entwicklungsverzögerung-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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