89546000: Bone structure of cranium (body structure)

SNOMED CT Concept\Body structure\Anatomical or acquired body structure (body structure)\Anatomical structure\...

\An anatomical structure that consists of the maximal set of organ parts so connected to one another that together they constitute a self-contained unit of macroscopic anatomy, distinct both morphologically and functionally from other such units. Together with other organs, an organ constitutes an organ system or a body part. An organ is divisible into organ parts but not organs (examples: femur, biceps, liver, heart, aorta, sciatic nerve, ovary).\Structure of bone organ\Bone structure\Regional bone structure\Bone structure of head and/or neck (body structure)\Bone structure of head\Bone structure of cranium

\Body system structure\Structure of musculoskeletal system (body structure)\...

\Structure of regional musculoskeletal system (body structure)\Structure of musculoskeletal system of head and/or neck (body structure)\Musculoskeletal structure of head\Bone and/or joint structure of cranium (body structure)\Bone structure of cranium
\Structure of regional musculoskeletal system (body structure)\Structure of musculoskeletal system of head and/or neck (body structure)\Musculoskeletal structure of head\Bone structure of head\Bone structure of cranium
\Structure of regional musculoskeletal system (body structure)\Regional bone structure\Bone structure of head and/or neck (body structure)\Bone structure of head\Bone structure of cranium

\Skeletal system structure\Structure of bony skeleton\Bony skeleton subdivision\Bone structure\Regional bone structure\Bone structure of head and/or neck (body structure)\Bone structure of head\Bone structure of cranium
\Skeletal system structure\Bone and/or joint structure (body structure)\Bone structure\Regional bone structure\Bone structure of head and/or neck (body structure)\Bone structure of head\Bone structure of cranium
\Skeletal system structure\Axial skeleton structure\Bone structure of head\Bone structure of cranium

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Bone structure of cranium	Is a	Bone structure of head	true	Inferred relationship	Some
Bone structure of cranium	del af	Entire head (body structure)	false	Additional relationship	Some
Bone structure of cranium	del af	Entire bony skeleton	false	Additional relationship	Some
Bone structure of cranium	Is a	Bone and/or joint structure of cranium (body structure)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Linear fracture of skull due to birth trauma (disorder)	Finding site	False	Bone structure of cranium	Inferred relationship	Some	2
Frontonasal dysplasia sequence	Finding site	False	Bone structure of cranium	Inferred relationship	Some	3
A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.	Finding site	False	Bone structure of cranium	Inferred relationship	Some	9
Cephalhematoma deformans of Schuller (disorder)	Finding site	False	Bone structure of cranium	Inferred relationship	Some	3
Depressed fracture of skull due to birth trauma (disorder)	Finding site	False	Bone structure of cranium	Inferred relationship	Some	2
Complex wound of head with avulsive loss of part of skull and cranial contents (disorder)	Finding site	True	Bone structure of cranium	Inferred relationship	Some	5
Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.	Finding site	False	Bone structure of cranium	Inferred relationship	Some	4
Parietal lift is used to release the sutures of the frontal bone and the anterior/posterior Falx Cerebri and Falx Cerebelli. Indications for this procedure include; headaches/migraines, sinus problems, CP, Frontal accidents (falls, mva), decreased smell or taste.	Procedure site - Direct (attribute)	True	Bone structure of cranium	Inferred relationship	Some	1
A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate.	Finding site	False	Bone structure of cranium	Inferred relationship	Some	6
Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.	Finding site	True	Bone structure of cranium	Inferred relationship	Some	2
A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, under ossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small, pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed.	Finding site	False	Bone structure of cranium	Inferred relationship	Some
Delayed membranous cranial ossification (disorder)	Finding site	True	Bone structure of cranium	Inferred relationship	Some	1
Entire bone of cranium (body structure)	Is a	True	Bone structure of cranium	Inferred relationship	Some
Acrocephalopolysyndactyly type IV	Finding site	False	Bone structure of cranium	Inferred relationship	Some
Summitt syndrome	Finding site	False	Bone structure of cranium	Inferred relationship	Some
A rare multiple congenital anomalies syndrome characterised by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and abnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on.	Finding site	False	Bone structure of cranium	Inferred relationship	Some
Exostosis of skull (disorder)	Finding site	True	Bone structure of cranium	Inferred relationship	Some	1
Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (including syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.	Finding site	False	Bone structure of cranium	Inferred relationship	Some
Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.	Finding site	True	Bone structure of cranium	Inferred relationship	Some	2
Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).	Finding site	True	Bone structure of cranium	Inferred relationship	Some	2
Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).	Finding site	False	Bone structure of cranium	Inferred relationship	Some	1
Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.	Finding site	False	Bone structure of cranium	Inferred relationship	Some	1
Acquired postural plagiocephaly (disorder)	Finding site	True	Bone structure of cranium	Inferred relationship	Some	1
Cephalhematoma deformans of Schuller (disorder)	Finding site	True	Bone structure of cranium	Inferred relationship	Some	1
A rare genetic bone development disorder with characteristics of parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported. There is evidence the disease is caused by heterozygous mutation in the MSX2 gene on chromosome 5q35.	Finding site	True	Bone structure of cranium	Inferred relationship	Some	1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, sensorineural hearing loss, developmental delay with variable degrees of intellectual disability, seizures, short stature, brachycephaly, and dysmorphic facial features (such as flat facial appearance, ptosis, short nasal tip, long philtrum, low-set and posteriorly rotated ears, and small mouth). Additional reported manifestations are skeletal abnormalities, nail dystrophy, mammary gland hypoplasia, and autism spectrum disorder.	Finding site	True	Bone structure of cranium	Inferred relationship	Some	2
Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).	Finding site	True	Bone structure of cranium	Inferred relationship	Some	1
A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay.	Finding site	True	Bone structure of cranium	Inferred relationship	Some	3
A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.	Finding site	False	Bone structure of cranium	Inferred relationship	Some	1
Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.	Finding site	True	Bone structure of cranium	Inferred relationship	Some	1
Craniosynostosis with facial dysmorphism and brachydactyly syndrome	Finding site	False	Bone structure of cranium	Inferred relationship	Some	4
Cleidocranial dysostosis	Finding site	True	Bone structure of cranium	Inferred relationship	Some	4
Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.	Finding site	True	Bone structure of cranium	Inferred relationship	Some	4
Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.	Finding site	False	Bone structure of cranium	Inferred relationship	Some	2
A rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus.	Finding site	True	Bone structure of cranium	Inferred relationship	Some	1
A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.	Finding site	True	Bone structure of cranium	Inferred relationship	Some	3
Frontonasal dysplasia sequence	Finding site	True	Bone structure of cranium	Inferred relationship	Some	1
A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence.	Finding site	True	Bone structure of cranium	Inferred relationship	Some	2
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.	Finding site	False	Bone structure of cranium	Inferred relationship	Some	5
Encephalocystocele	Finding site	False	Bone structure of cranium	Inferred relationship	Some	2
Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.	Finding site	False	Bone structure of cranium	Inferred relationship	Some	3
Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.	Finding site	False	Bone structure of cranium	Inferred relationship	Some	2
Nasofrontal encephalocele	Finding site	False	Bone structure of cranium	Inferred relationship	Some	2
Nasopharyngeal encephalocele	Finding site	False	Bone structure of cranium	Inferred relationship	Some	2
A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992.	Finding site	True	Bone structure of cranium	Inferred relationship	Some	1
Encephalocele of orbit	Finding site	False	Bone structure of cranium	Inferred relationship	Some	1
Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.	Finding site	True	Bone structure of cranium	Inferred relationship	Some	1
Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.	Finding site	True	Bone structure of cranium	Inferred relationship	Some	3
Microbrachycephaly-ptosis-cleft lip syndrome is characterized by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.	Finding site	True	Bone structure of cranium	Inferred relationship	Some	2
Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.	Finding site	True	Bone structure of cranium	Inferred relationship	Some	1
Congenital cerebral meningocele	Finding site	True	Bone structure of cranium	Inferred relationship	Some	1
A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate.	Finding site	True	Bone structure of cranium	Inferred relationship	Some	2
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Finding site	True	Bone structure of cranium	Inferred relationship	Some	1
Cystic dermoid choristoma of skull	Finding site	False	Bone structure of cranium	Inferred relationship	Some	1
A rare genetic dysostosis disorder with characteristics of craniofacial bone abnormalities (for example midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.	Finding site	False	Bone structure of cranium	Inferred relationship	Some	2
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.	Finding site	False	Bone structure of cranium	Inferred relationship	Some	5
A rare genetic cranial malformation syndrome with characteristics of premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (for example finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported. There is evidence this disease is caused by homozygous mutation in the IL11RA gene on chromosome 9p13.	Finding site	False	Bone structure of cranium	Inferred relationship	Some
Incomplete ossification of skull (disorder)	Finding site	True	Bone structure of cranium	Inferred relationship	Some	1
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.	Finding site	False	Bone structure of cranium	Inferred relationship	Some	1
Meningoencephalocele	Finding site	True	Bone structure of cranium	Inferred relationship	Some	2
A rare genetic developmental defect during embryogenesis disorder with characteristics of craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. There is evidence the disease can be caused by homozygous mutation in the IRX5 gene on chromosome 16q11.2.	Finding site	True	Bone structure of cranium	Inferred relationship	Some	2
A rare genetic orofacial clefting malformation syndrome with characteristics of severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphthalmia and hypertelorism. Frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region. There is evidence the disease is caused by homozygous mutation in the ALX1 gene on chromosome 12q21.	Finding site	True	Bone structure of cranium	Inferred relationship	Some	4
A rare genetic lethal primary bone dysplasia with characteristics of dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophthalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis and bent long bones (particularly involving the femora). Caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated.	Finding site	False	Bone structure of cranium	Inferred relationship	Some
CT of skull	Procedure site - Direct (attribute)	True	Bone structure of cranium	Inferred relationship	Some	1
An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia and cleft palate. The syndrome is associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.	Finding site	True	Bone structure of cranium	Inferred relationship	Some	1
Nasal encephalocele	Finding site	False	Bone structure of cranium	Inferred relationship	Some	2
Laceration af hjernestamme med åbent intrakranielt sår OG med langvarig bevidstløshed (over 24 timer) OG tilbagevenden til forudgående bevidsthedsniveau	Finding site	False	Bone structure of cranium	Inferred relationship	Some	2
Laceration af hjernestamme med åbent intrakranielt sår OG med moderat bevidstløshed (1-24 timer)	Finding site	False	Bone structure of cranium	Inferred relationship	Some	2
Brain stem laceration with open intracranial wound AND concussion	Finding site	False	Bone structure of cranium	Inferred relationship	Some	2
Cerebellar laceration med åbent intrakranielt sår OG med langvarig bevidstløshed (over 24 timer) OG tilbagevenden til forudgående bevidsthedsniveau	Finding site	False	Bone structure of cranium	Inferred relationship	Some	2
Cortex laceration with open intracranial wound AND concussion	Finding site	False	Bone structure of cranium	Inferred relationship	Some	2
Brain stem laceration with open intracranial wound	Finding site	False	Bone structure of cranium	Inferred relationship	Some	1
Cortex laceration with open intracranial wound	Finding site	False	Bone structure of cranium	Inferred relationship	Some	1
Laceration af hjernestamme med åbent intrakranielt sår OG med langvarig bevidstløshed (over 24 timer) uden tilbagevenden til forudgående bevidsthedsniveau	Finding site	False	Bone structure of cranium	Inferred relationship	Some	2
Brain stem laceration with open intracranial wound AND loss of consciousness	Finding site	False	Bone structure of cranium	Inferred relationship	Some	2
Cerebellar laceration with open intracranial wound AND loss of consciousness	Finding site	False	Bone structure of cranium	Inferred relationship	Some	2
laceration af cortex med åbent intrakranielt sår, med under 1 times bevidstløshed	Finding site	False	Bone structure of cranium	Inferred relationship	Some	1
Cerebellar laceration med åbent intrakranielt sår OG moderat bevidstløshed (1-24 timer)	Finding site	False	Bone structure of cranium	Inferred relationship	Some	2
Cortex laceration with open intracranial wound, with no loss of consciousness	Finding site	False	Bone structure of cranium	Inferred relationship	Some	1
laceration af cortex med åbent intrakranielt sår, med 1-24 timers bevidstløshed	Finding site	False	Bone structure of cranium	Inferred relationship	Some	1
laceration af cortex med åbent intrakranielt sår, med mere end 24 timers bevidstløshed og tilbagevenden til forudgående bevidsthedsniveau	Finding site	False	Bone structure of cranium	Inferred relationship	Some	1
laceration af cortex med åbent intrakranielt sår, med mere end 24 timers bevidstløshed uden tilbagevenden til forudgående bevidsthedsniveau	Finding site	False	Bone structure of cranium	Inferred relationship	Some	1
Cerebellar laceration with open intracranial wound AND concussion	Finding site	False	Bone structure of cranium	Inferred relationship	Some	2
Cortex laceration with open intracranial wound AND loss of consciousness	Finding site	False	Bone structure of cranium	Inferred relationship	Some	2
Cerebellar laceration with open intracranial wound	Finding site	False	Bone structure of cranium	Inferred relationship	Some	2
Cerebellar laceration med åben intrakraniel blødning OG med langvarig bevidstløshed (over 24 timer) uden tilbagevenden til forudgående bevidsthedsniveau	Finding site	False	Bone structure of cranium	Inferred relationship	Some	2
Nasofrontal encephalocele	Finding site	False	Bone structure of cranium	Inferred relationship	Some	3
Nasopharyngeal encephalocele	Finding site	False	Bone structure of cranium	Inferred relationship	Some	3
A rare frontonasal dysplasia malformation syndrome with characteristics of an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts and bilateral symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991.	Finding site	True	Bone structure of cranium	Inferred relationship	Some	1
Replacement of Vinke tongs of skull	Procedure site - Indirect (attribute)	True	Bone structure of cranium	Inferred relationship	Some	1
Laceration of brain with open intracranial wound	Finding site	False	Bone structure of cranium	Inferred relationship	Some	2
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.	Finding site	True	Bone structure of cranium	Inferred relationship	Some	3
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.	Finding site	False	Bone structure of cranium	Inferred relationship	Some	2
Occipital encephalocele	Finding site	False	Bone structure of cranium	Inferred relationship	Some	1
A rare genetic dysostosis disorder with characteristics of craniofacial bone abnormalities (for example midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.	Finding site	True	Bone structure of cranium	Inferred relationship	Some	1
A rare dysostosis syndrome with characteristics of vertical median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations. The syndrome manifests with highly variable craniofacial features which include hypertelorism, eyelid coloboma, orbital dystopia, epibulbar dermoid, nasal anomalies (for example wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated.	Finding site	True	Bone structure of cranium	Inferred relationship	Some	1
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.	Finding site	False	Bone structure of cranium	Inferred relationship	Some	3
A congenital disorder of craniofacial development with characteristics of bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. The syndrome is caused by mutations in the TCOF1 gene (5q32) encoding the nucleolar phosphoprotein Treacle or in the POLR1C (6p21.1) or POLR1D (13q12.2) genes, coding for RNA polymerase I and III subunits. Transmission is autosomal dominant with 90% penetrance and variable expressivity, even among affected patients within the same family. Mutations in POLR1C gene are inherited in autosomal recessive manner.	Finding site	True	Bone structure of cranium	Inferred relationship	Some	2
Osteomyelitis of cranium	Finding site	True	Bone structure of cranium	Inferred relationship	Some	2
Hyperostosis of skull (finding)	Finding site	True	Bone structure of cranium	Inferred relationship	Some	1
Dermoid cyst of skull	Finding site	True	Bone structure of cranium	Inferred relationship	Some	1

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Reference Sets

Anatomy structure and entire association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
148466018	Skull	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
148468017	Cranium	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
508559014	Bone structure of cranium	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
832462018	Bone structure of cranium (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1235470016	Bone of cranium	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2846251000005110	Knoglestruktur af kraniet	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)