722036008: Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Hydrocephalus (disorder)\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Head finding (finding)\Finding of head region\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Hydrocephalus (disorder)\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Hydrocephalus (disorder)\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Hydrocephalus (disorder)\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Hydrocephalus (disorder)\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Hydrocephalus (disorder)\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Macroencephaly (disorder)\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus 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
3330269015	Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330270019	Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330271015	MPPH syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330272010	MPPH (megalencephaly, polymicrogyria, polydactyly, hydrocephalus) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402787012	A rare syndrome with a central nervous system malformation as a major feature characterized by macrocephaly, megalencephaly, bilateral perisylvian polymicrogyria, variable degrees of ventriculomegaly/hydrocephalus, developmental delay and intellectual disability, oromotor dysfunction, hypotonia, seizures, and dysmorphic facial features (such as frontal bossing, low-set ears, a flat nasal bridge, and high-arched palate). Postaxial polydactyly of one or more extremities is also common.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402788019	A rare syndrome with a central nervous system malformation as a major feature characterised by macrocephaly, megalencephaly, bilateral perisylvian polymicrogyria, variable degrees of ventriculomegaly/hydrocephalus, developmental delay and intellectual disability, oromotor dysfunction, hypotonia, seizures, and dysmorphic facial features (such as frontal bossing, low-set ears, a flat nasal bridge, and high-arched palate). Postaxial polydactyly of one or more extremities is also common.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330269015	Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3330269015	Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330270019	Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3330270019	Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330271015	MPPH syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330272010	MPPH (megalencephaly, polymicrogyria, polydactyly, hydrocephalus) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330273017	This syndrome has characteristics of megalencephaly, polymicrogyria and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402787012	A rare syndrome with a central nervous system malformation as a major feature characterized by macrocephaly, megalencephaly, bilateral perisylvian polymicrogyria, variable degrees of ventriculomegaly/hydrocephalus, developmental delay and intellectual disability, oromotor dysfunction, hypotonia, seizures, and dysmorphic facial features (such as frontal bossing, low-set ears, a flat nasal bridge, and high-arched palate). Postaxial polydactyly of one or more extremities is also common.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402788019	A rare syndrome with a central nervous system malformation as a major feature characterised by macrocephaly, megalencephaly, bilateral perisylvian polymicrogyria, variable degrees of ventriculomegaly/hydrocephalus, developmental delay and intellectual disability, oromotor dysfunction, hypotonia, seizures, and dysmorphic facial features (such as frontal bossing, low-set ears, a flat nasal bridge, and high-arched palate). Postaxial polydactyly of one or more extremities is also common.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3393361001000113	Megalenzephalie-Polymikrogyrie-postaxiale Polydaktylie-Hydrozephalus-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6346931000241119	syndrome MPPH (mégalencéphalie, polymicrogyrie, polydactylie post-axiale, hydrocéphalie)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6346941000241112	syndrome de mégalencéphalie, polymicrogyrie, polydactylie post-axiale et hydrocéphalie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6346931000241119	syndrome MPPH (mégalencéphalie, polymicrogyrie, polydactylie post-axiale, hydrocéphalie)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6346941000241112	syndrome de mégalencéphalie, polymicrogyrie, polydactylie post-axiale et hydrocéphalie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3393361001000113	Megalenzephalie-Polymikrogyrie-postaxiale Polydaktylie-Hydrozephalus-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)

Back to Start