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55999004: Encephalocele (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebral herniation\Encephalocele
\Head finding (finding)\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Encephalocele
\Head finding (finding)\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Encephalocele
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebral herniation\Encephalocele

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebral herniation\Encephalocele
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebral herniation\Encephalocele

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Encephalocele	Is a	Neural tube defect	false	Inferred relationship	Some
Encephalocele	Is a	Congenital abnormality of skull and face bones	false	Inferred relationship	Some
Encephalocele	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Encephalocele	Finding site	Brain structure	false	Inferred relationship	Some	3
Encephalocele	Associated morphology	Congenital failure of fusion with herniated tissue	false	Inferred relationship	Some	1
Encephalocele	Occurrence	Congenital	false	Inferred relationship	Some
Encephalocele	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	2
Encephalocele	Associated morphology	Congenital protrusion	false	Inferred relationship	Some	3
Encephalocele	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Encephalocele	Finding site	Bone structure of cranium	false	Inferred relationship	Some	1
Encephalocele	Is a	Congenital malformation	false	Inferred relationship	Some
Encephalocele	Associated morphology	Congenital failure of fusion with herniated tissue	false	Inferred relationship	Some	1
Encephalocele	Finding site	Bone structure of cranium	true	Inferred relationship	Some	1
Encephalocele	Occurrence	Congenital	true	Inferred relationship	Some	2
Encephalocele	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Encephalocele	Is a	Disorder of skull (disorder)	false	Inferred relationship	Some
Encephalocele	Finding site	Bone structure of head	false	Inferred relationship	Some	2
Encephalocele	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Encephalocele	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Encephalocele	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	2
Encephalocele	Associated morphology	Herniated structure (morphologic abnormality)	true	Inferred relationship	Some	2
Encephalocele	Occurrence	Congenital	true	Inferred relationship	Some	1
Encephalocele	Finding site	Brain structure	true	Inferred relationship	Some	2
Encephalocele	Is a	Congenital anomaly of skull	true	Inferred relationship	Some
Encephalocele	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	1
Encephalocele	Is a	Cranioschisis	false	Inferred relationship	Some
Encephalocele	Is a	Disorder of brain (disorder)	false	Inferred relationship	Some
Encephalocele	Is a	Cerebral herniation	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Frontal encephalocele	Is a	True	Encephalocele	Inferred relationship	Some
Frontoethmoidal encephalocele	Is a	False	Encephalocele	Inferred relationship	Some
Temporal encephalocele	Is a	True	Encephalocele	Inferred relationship	Some
Parietal encephalocele	Is a	True	Encephalocele	Inferred relationship	Some
Encephalocele of orbit	Is a	True	Encephalocele	Inferred relationship	Some
Occipital encephalocele	Is a	True	Encephalocele	Inferred relationship	Some
Meningoencephalocele	Is a	True	Encephalocele	Inferred relationship	Some
Encephalocystocele	Is a	True	Encephalocele	Inferred relationship	Some
Nasal encephalocele	Is a	True	Encephalocele	Inferred relationship	Some
Encephalomyelocele	Is a	True	Encephalocele	Inferred relationship	Some
hydroméningocèle crânienne congénitale	Is a	False	Encephalocele	Inferred relationship	Some
Sinus pericranii	Is a	False	Encephalocele	Inferred relationship	Some
hernie endo-auriculaire congénitale	Is a	False	Encephalocele	Inferred relationship	Some
Congenital cerebral hernia	Is a	True	Encephalocele	Inferred relationship	Some
encéphalocystocèle	Is a	False	Encephalocele	Inferred relationship	Some
Encephalocele NOS	Is a	False	Encephalocele	Inferred relationship	Some
[X]Encephalocele of other sites	Is a	False	Encephalocele	Inferred relationship	Some
Encephalocele of other specified site	Is a	False	Encephalocele	Inferred relationship	Some
Encephalocele of vertex (disorder)	Is a	True	Encephalocele	Inferred relationship	Some
Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.	Is a	True	Encephalocele	Inferred relationship	Some
Repair of meningoencephalocele	Has focus	False	Encephalocele	Inferred relationship	Some	3
Repair of encephalocele	Has focus	True	Encephalocele	Inferred relationship	Some	2
Cranioplasty with synchronous repair of encephalocele	Has focus	True	Encephalocele	Inferred relationship	Some	4
Basal encephalocele (disorder)	Is a	True	Encephalocele	Inferred relationship	Some
Iniencephaly - open	Is a	True	Encephalocele	Inferred relationship	Some
Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.	Is a	False	Encephalocele	Inferred relationship	Some
Cerebrospinal fluid otorrhea due to encephalocele (disorder)	Due to	True	Encephalocele	Inferred relationship	Some	3
A rare neural tube closure defect with characteristics of partial lack of bone fusion resulting in sac-like protrusions of the brain and the membranes that cover it through the openings in the skull. Protruding tissue may be located on any part of the head but most often affects the occipital area. Depending in the size and location, encephalocele are often associated with neurological problems including intellectual disability, seizures, vision impairment, ataxia and hydrocephalus. This disorder is not associated with a polymalformative syndrome.	Is a	True	Encephalocele	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
93138018	Encephalocele	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
93140011	Cephalocele	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
93141010	Craniocele	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
794461014	Encephalocele (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1871691000195119	encefalocele	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
201551000172117	encéphalocèle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
619961000172112	encephalocele	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
415291000274116	Enzephalozele	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
451381000274118	Hernia cerebri	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3440811001000110	Zephalozele	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module