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

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\...

\Hydrocephalus\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome

\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disorder of head\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome

\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Disorder of head\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital microencephaly\Microgyria\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Macroencephaly\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3330270019 Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome en Synonym Active Case insensitive SNOMED CT core

3330271015 MPPH syndrome en Synonym Active Case sensitive SNOMED CT core

3330272010 MPPH (megalencephaly, polymicrogyria, polydactyly, hydrocephalus) syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	Finding site	Entire brain	false	Inferred relationship	Some	2
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	Associated morphology	Congenital enlargement	false	Inferred relationship	Some	2
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	Finding site	Brain CSF pathway	true	Inferred relationship	Some	1
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	1
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	Associated morphology	Dilatation	true	Inferred relationship	Some	1
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	Associated morphology	Enlargement	true	Inferred relationship	Some	2
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	Finding site	Structure of cerebrum	true	Inferred relationship	Some	2
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	Is a	Microgyria	true	Inferred relationship	Some
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	Is a	Macroencephaly	true	Inferred relationship	Some
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	Is a	Congenital hydrocephalus	true	Inferred relationship	Some
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	Associated morphology	Congenital enlargement	false	Inferred relationship	Some	3
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	Finding site	Entire brain	false	Inferred relationship	Some	3
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Some	5
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	Finding site	Structure of gyrus of brain	false	Inferred relationship	Some	5
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	3
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	Finding site	Structure of gyrus of brain	true	Inferred relationship	Some	3
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	4
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	Finding site	Brain CSF pathway	false	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3330269015	Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3330270019	Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3330271015	MPPH syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3330272010	MPPH (megalencephaly, polymicrogyria, polydactyly, hydrocephalus) syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core