763821001: Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Neurological lesion\Lesion of brain\Congenital porencephaly\Porencephaly, cerebellar hypoplasia, internal malformations syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Lesion of brain\Congenital porencephaly\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Absence of the vermis\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital porencephaly\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital porencephaly\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Lesion of brain\Congenital porencephaly\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Absence of the vermis\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital porencephaly\Porencephaly, cerebellar hypoplasia, internal malformations syndrome

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

\Finding of brain\Encephalopathy\...

\Lesion of brain\Congenital porencephaly\Porencephaly, cerebellar hypoplasia, internal malformations syndrome

\Cerebellar disorder\Absence of the vermis\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome

\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Congenital anomaly of brain\Congenital porencephaly\Porencephaly, cerebellar hypoplasia, internal malformations syndrome

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital porencephaly\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disorder of head\Encephalopathy\Lesion of brain\Congenital porencephaly\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disorder of head\Encephalopathy\Cerebellar disorder\Absence of the vermis\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital porencephaly\Porencephaly, cerebellar hypoplasia, internal malformations syndrome

\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital porencephaly\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Porencephaly, cerebellar hypoplasia, internal malformations 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 hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Porencephaly, cerebellar hypoplasia, internal malformations 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 porencephaly\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Lesion of brain\Congenital porencephaly\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Absence of the vermis\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital porencephaly\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital porencephaly\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Disorder of head\Encephalopathy\Lesion of brain\Congenital porencephaly\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Absence of the vermis\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital porencephaly\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital porencephaly\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital porencephaly\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital porencephaly\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Porencephaly, cerebellar hypoplasia, internal malformations syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital porencephaly\Porencephaly, cerebellar hypoplasia, internal malformations syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3644107013 Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3644108015 Porencephaly, cerebellar hypoplasia, internal malformations syndrome en Synonym Active Case insensitive SNOMED CT core

3644109011 Bonnemann Meinecke syndrome en Synonym Active Case sensitive SNOMED CT core

3644738015 A rare central nervous system malformation syndrome with characteristics of bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Porencephaly, cerebellar hypoplasia, internal malformations syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Porencephaly, cerebellar hypoplasia, internal malformations syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Porencephaly, cerebellar hypoplasia, internal malformations syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Porencephaly, cerebellar hypoplasia, internal malformations syndrome	Associated morphology	Cystic dilatation	true	Inferred relationship	Some	1
Porencephaly, cerebellar hypoplasia, internal malformations syndrome	Is a	Congenital absence of part of brain	true	Inferred relationship	Some
Porencephaly, cerebellar hypoplasia, internal malformations syndrome	Is a	Congenital cerebellar hypoplasia	true	Inferred relationship	Some
Porencephaly, cerebellar hypoplasia, internal malformations syndrome	Is a	Congenital porencephaly	true	Inferred relationship	Some
Porencephaly, cerebellar hypoplasia, internal malformations syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Porencephaly, cerebellar hypoplasia, internal malformations syndrome	Is a	Absence of the vermis	true	Inferred relationship	Some
Porencephaly, cerebellar hypoplasia, internal malformations syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Porencephaly, cerebellar hypoplasia, internal malformations syndrome	Associated morphology	Absence	false	Inferred relationship	Some	3
Porencephaly, cerebellar hypoplasia, internal malformations syndrome	Finding site	Cerebellar vermis structure	false	Inferred relationship	Some	3
Porencephaly, cerebellar hypoplasia, internal malformations syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	3
Porencephaly, cerebellar hypoplasia, internal malformations syndrome	Finding site	Cerebellar structure	true	Inferred relationship	Some	3
Porencephaly, cerebellar hypoplasia, internal malformations syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Porencephaly, cerebellar hypoplasia, internal malformations syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Porencephaly, cerebellar hypoplasia, internal malformations syndrome	Associated morphology	Hypoplasia	false	Inferred relationship	Some	2
Porencephaly, cerebellar hypoplasia, internal malformations syndrome	Finding site	Brain structure	true	Inferred relationship	Some	1
Porencephaly, cerebellar hypoplasia, internal malformations syndrome	Associated morphology	Congenital cavitation	false	Inferred relationship	Some	1
Porencephaly, cerebellar hypoplasia, internal malformations syndrome	Finding site	Cerebellar structure	false	Inferred relationship	Some	2
Porencephaly, cerebellar hypoplasia, internal malformations syndrome	Associated morphology	Absence	true	Inferred relationship	Some	2
Porencephaly, cerebellar hypoplasia, internal malformations syndrome	Finding site	Cerebellar vermis structure	true	Inferred relationship	Some	2

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
3644107013	Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3644108015	Porencephaly, cerebellar hypoplasia, internal malformations syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3644109011	Bonnemann Meinecke syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3644738015	A rare central nervous system malformation syndrome with characteristics of bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.	en	Definition	Active	Case sensitive	SNOMED CT core