720855003: Cerebrooculonasal syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Cerebrooculonasal syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Cerebrooculonasal syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Cerebrooculonasal syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Cerebrooculonasal syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Cerebrooculonasal syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Cerebrooculonasal syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Cerebrooculonasal syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Cerebrooculonasal syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Cerebrooculonasal syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cerebrooculonasal syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cerebrooculonasal syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Cerebrooculonasal syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Cerebrooculonasal syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Cerebrooculonasal syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Cerebrooculonasal syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Cerebrooculonasal syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Cerebrooculonasal syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Cerebrooculonasal syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Cerebrooculonasal syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Cerebrooculonasal syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Cerebrooculonasal syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Cerebrooculonasal syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Cerebrooculonasal syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Cerebrooculonasal syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Cerebrooculonasal syndrome

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
3322302010	Cerebrooculonasal syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322303017	Cerebrooculonasal syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322304011	Cerebro-oculo-nasal syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402505015	Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3322302010	Cerebrooculonasal syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3322302010	Cerebrooculonasal syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322303017	Cerebrooculonasal syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3322303017	Cerebrooculonasal syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322304011	Cerebro-oculo-nasal syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3322304011	Cerebro-oculo-nasal syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3322305012	A multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay. Additional features include brachycephaly and other facial anomalies. Non-facial anomalies have also been reported: postaxial polydactyly, genital hypoplasia. All cases reported so far have been sporadic, suggesting that the syndrome may be due to a new dominant mutation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402505015	Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3448171001000111	Zerebro-okulo-nasales Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
998241000172110	syndrome cérébrooculonasal	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
998241000172110	syndrome cérébrooculonasal	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3448171001000111	Zerebro-okulo-nasales 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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