42376006: Occipital encephalocele (disorder)

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

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

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

\Musculoskeletal finding\Bone finding\Skull finding (finding)\Disorder of skull (disorder)\Congenital anomaly of skull\Encephalocele\Occipital encephalocele
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele\Occipital encephalocele
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Occipital encephalocele
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Encephalocele\Occipital encephalocele
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Occipital encephalocele
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Congenital anomaly of bone and joint\Occipital encephalocele
\Musculoskeletal finding\Joint finding\Cranial suture finding\Occipital encephalocele
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Occipital encephalocele
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Congenital anomaly of bone and joint\Occipital encephalocele
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele\Occipital encephalocele
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Occipital encephalocele
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Encephalocele\Occipital encephalocele
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Occipital encephalocele
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele\Occipital encephalocele
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Occipital encephalocele

\Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Occipital encephalocele
\Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Congenital anomaly of bone and joint\Occipital encephalocele
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele\Occipital encephalocele
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Occipital encephalocele
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele\Occipital encephalocele
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Occipital encephalocele
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebral herniation\Encephalocele\Occipital encephalocele
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Occipital encephalocele
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Congenital anomaly of bone and joint\Occipital encephalocele
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele\Occipital encephalocele
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Occipital encephalocele
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Encephalocele\Occipital encephalocele
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Occipital encephalocele
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele\Occipital encephalocele
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Occipital encephalocele
\Disease\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Encephalocele\Occipital encephalocele
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele\Occipital encephalocele
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebral herniation\Encephalocele\Occipital encephalocele
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele\Occipital encephalocele
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Occipital encephalocele
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele\Occipital encephalocele
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Occipital encephalocele
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Encephalocele\Occipital encephalocele
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Occipital encephalocele

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

70703017 Occipital encephalocele en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

779268014 Occipital encephalocele (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2455021000005111 Occipitalt encefalocele da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Occipital encephalocele	Is a	Encephalocele	true	Inferred relationship	Some
Occipital encephalocele	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Occipital encephalocele	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	2
Occipital encephalocele	Associated morphology	kongenit sammenvoksningsdefekt med hernie	false	Inferred relationship	Some	2
Occipital encephalocele	Associated morphology	kongenit protrusion	false	Inferred relationship	Some	1
Occipital encephalocele	Finding site	Bone structure of cranium	false	Inferred relationship	Some	2
Occipital encephalocele	Finding site	Occipital lobe structure	false	Inferred relationship	Some	1
Occipital encephalocele	Finding site	Brain structure	false	Inferred relationship	Some	1
Occipital encephalocele	Occurrence	Congenital	false	Inferred relationship	Some
Occipital encephalocele	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Occipital encephalocele	Finding site	Occipital lobe structure	false	Inferred relationship	Some	1
Occipital encephalocele	Associated morphology	kongenit sammenvoksningsdefekt med hernie	false	Inferred relationship	Some	2
Occipital encephalocele	Finding site	Bone structure of cranium	true	Inferred relationship	Some	2
Occipital encephalocele	Associated morphology	kongenit protrusion	false	Inferred relationship	Some	1
Occipital encephalocele	Occurrence	Congenital	true	Inferred relationship	Some	3
Occipital encephalocele	Associated morphology	dysgenese	false	Inferred relationship	Some	3
Occipital encephalocele	Occurrence	Congenital	false	Inferred relationship	Some	4
Occipital encephalocele	Associated morphology	dysgenese	false	Inferred relationship	Some	4
Occipital encephalocele	Finding site	Bone structure of head	false	Inferred relationship	Some	3
Occipital encephalocele	Finding site	Brain structure	true	Inferred relationship	Some	3
Occipital encephalocele	Finding site	Bone structure of head	false	Inferred relationship	Some	4
Occipital encephalocele	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Occipital encephalocele	Is a	Kongenitte anomalier og udviklingsanomalier i nervesystemet	false	Inferred relationship	Some
Occipital encephalocele	Occurrence	Congenital	true	Inferred relationship	Some	2
Occipital encephalocele	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Occipital encephalocele	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
Occipital encephalocele	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	3
Occipital encephalocele	Occurrence	Congenital	true	Inferred relationship	Some	1
Occipital encephalocele	Is a	cerebrale anomalier	false	Inferred relationship	Some
Occipital encephalocele	Associated morphology	Herniated structure (morphologic abnormality)	false	Inferred relationship	Some	2
Occipital encephalocele	Is a	Cerebral herniation	false	Inferred relationship	Some
Occipital encephalocele	Is a	Congenital anomaly of cerebrum (disorder)	false	Inferred relationship	Some
Occipital encephalocele	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	1
Occipital encephalocele	Finding site	Bone structure of cranium	false	Inferred relationship	Some	1
Occipital encephalocele	Finding site	Occipital lobe structure	false	Inferred relationship	Some	2
Occipital encephalocele	Finding site	Brain structure	false	Inferred relationship	Some	2
Occipital encephalocele	Is a	Cranial suture finding	true	Inferred relationship	Some
Occipital encephalocele	Is a	Lesion of joint	true	Inferred relationship	Some
Occipital encephalocele	Is a	Congenital anomaly of bone and joint	true	Inferred relationship	Some
Occipital encephalocele	Finding site	Structure of occipitomastoid suture of skull	true	Inferred relationship	Some	1
Occipital encephalocele	Is a	Finding of head region	true	Inferred relationship	Some
Occipital encephalocele	Is a	Congenital anomaly of joint	false	Inferred relationship	Some
Occipital encephalocele	Associated morphology	Herniated structure (morphologic abnormality)	true	Inferred relationship	Some	3
Occipital encephalocele	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Knobloch syndrome is defined by vitreoretinal and macular degeneration, and occipital encephalocele. The disease has characteristics of early-onset severe myopia (usually becoming apparent in the first year of life), vitreoretinal degeneration with retinal detachment, macular abnormalities, and midline encephalocele (mainly in the occipital region). The syndrome is clinically and genetically heterogeneous with three forms, KNO1, KNO2 and KNO3, being defined. KNO1 is caused by inactivating mutations in the collagen XVIII/endostatin gene (COL18A1) mapped to 21q22.3. The KNO2 form was defined when linkage to the KNO1 locus was excluded in a family reported from New Zealand. Recently, a novel type of KS (KNO3) was mapped to chromosome 17q11.2. Inherited as an autosomal recessive trait.	Is a	True	Occipital encephalocele	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported.	Is a	True	Occipital 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	True	Occipital encephalocele	Inferred relationship	Some

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
70703017	Occipital encephalocele	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
779268014	Occipital encephalocele (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2455021000005111	Occipitalt encefalocele	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)