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55999004: Encephalocele (disorder)

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

Descriptions:

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
2004261000005112 Encefalocele da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

22 descendants. Search Descendants:

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 kongenit sammenvoksningsdefekt med hernie 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 kongenit protrusion false Inferred relationship Some 3
Encephalocele Associated morphology dysgenese 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 kongenit sammenvoksningsdefekt med hernie 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 dysgenese 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 (disorder) 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
Kranielt hydromeningocele Is a False Encephalocele Inferred relationship Some
Sinus pericranii Is a False Encephalocele Inferred relationship Some
Kongenit endaural hernie Is a False Encephalocele Inferred relationship Some
Congenital cerebral hernia Is a True Encephalocele Inferred relationship Some
Hydroencefalocele Is a False Encephalocele Inferred relationship Some
Encefalocele, ikke nærmere specificeret Is a False Encephalocele Inferred relationship Some
[X]Encephalocele of other sites Is a False Encephalocele Inferred relationship Some
encefalocele med anden specificeret lokalisation 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 (procedure) 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
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. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13. 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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