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89546000: Bone structure of cranium (body structure)


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

Descriptions:

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
894521000172118 os du crâne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
897701000172111 crâne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
979851000172113 cranium fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1004771000172114 structure osseuse du crâne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


669 descendants. Search Descendants:

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 partie de Entire head false Additional relationship Some
Bone structure of cranium partie de 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
Dithoracic parapagus Finding site False Bone structure of cranium Inferred relationship Some 1
Dicephalus dipus dibrachius Finding site False Bone structure of cranium Inferred relationship Some 2
Cranial duplication Finding site False Bone structure of cranium Inferred relationship Some 2
Agnathus Finding site False Bone structure of cranium Inferred relationship Some 3
Synotus Finding site False Bone structure of cranium Inferred relationship Some 3
Derencephalus Finding site False Bone structure of cranium Inferred relationship Some 3
Atretocephalus Finding site False Bone structure of cranium Inferred relationship Some 3
Monster with cranial anomalies Finding site False Bone structure of cranium Inferred relationship Some 3
Lack of ossification of presphenoid bone Finding site True Bone structure of cranium Inferred relationship Some 4
Lack of ossification of supraoccipital bone Finding site True Bone structure of cranium Inferred relationship Some 4
Lack of ossification of basisphenoid bone Finding site True Bone structure of cranium Inferred relationship Some 4
Acraniate monster Finding site False Bone structure of cranium Inferred relationship Some 3
Podencephalus Finding site False Bone structure of cranium Inferred relationship Some 3
A rare systemic disorder characterised by vitreoretinal and macular degeneration, as well as occipital encephalocele. Finding site False Bone structure of cranium Inferred relationship Some 8
Congenital absence of skull bone Finding site True Bone structure of cranium Inferred relationship Some 1
Dicephalus dipus tribrachius Finding site False Bone structure of cranium Inferred relationship Some 5
Desmiognathus Finding site False Bone structure of cranium Inferred relationship Some 5
Craniolacunia Finding site False Bone structure of cranium Inferred relationship Some 3
Congenital depression in skull Finding site True Bone structure of cranium Inferred relationship Some 1
Congenital plagiocephaly with pelvic obliquity (disorder) Finding site True Bone structure of cranium Inferred relationship Some 1
Acrocephalosyndactyly Finding site False Bone structure of cranium Inferred relationship Some
Closed fracture of naso orbital ethmoid (disorder) Finding site False Bone structure of cranium Inferred relationship Some 4
Acrocephalopolysyndactyly type III (disorder) Finding site False Bone structure of cranium Inferred relationship Some
A rare syndromic craniosynostosis with variable phenotypic expression characterized by craniosynostosis, intellectual disability, distinctive facies, abnormalities of the fingers and toes (brachydactyly, polydactyly and syndactyly), short stature, congenital heart disease, skeletal defects, obesity, genital abnormalities and umbilical hernia. Finding site False Bone structure of cranium Inferred relationship Some
Hemicraniotomy (procedure) Procedure site - Direct (attribute) True Bone structure of cranium Inferred relationship Some 1
Open fracture of naso orbital ethmoid (disorder) Finding site False Bone structure of cranium Inferred relationship Some 3
Acrocephalopolysyndactyly Finding site False Bone structure of cranium Inferred relationship Some
Carpenter's syndrome Finding site False Bone structure of cranium Inferred relationship Some
A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance. Finding site False Bone structure of cranium Inferred relationship Some
Cutis gyrata syndrome of Beare and Stevenson Finding site False Bone structure of cranium Inferred relationship Some
Jackson-Weiss syndrome Finding site False Bone structure of cranium Inferred relationship Some
Dicephalus tripus tribrachius Finding site False Bone structure of cranium Inferred relationship Some 5
Dicephalus dipus tetrabrachius Finding site False Bone structure of cranium Inferred relationship Some 5
Dicephalic parapagus Finding site False Bone structure of cranium Inferred relationship Some 5
derodidymis Finding site False Bone structure of cranium Inferred relationship Some 5
Dithoracic parapagus Finding site False Bone structure of cranium Inferred relationship Some 5
Dicephalus dipus dibrachius Finding site False Bone structure of cranium Inferred relationship Some 5
Cranial duplication Finding site False Bone structure of cranium Inferred relationship Some 5
Craniotabes Finding site False Bone structure of cranium Inferred relationship Some 3
Craniotabes Finding site False Bone structure of cranium Inferred relationship Some 4
Congenital positional plagiocephaly Finding site True Bone structure of cranium Inferred relationship Some 1
Sinus pericranii Finding site False Bone structure of cranium Inferred relationship Some 3
Replacement of Crutchfield tongs of skull Procedure site - Indirect (attribute) True Bone structure of cranium Inferred relationship Some 2
Temporo-auro-mandibular dysostosis Finding site False Bone structure of cranium Inferred relationship Some 4
Specimen from cranium bone obtained by craniotomy (specimen) Specimen source topography True Bone structure of cranium Inferred relationship Some 1
Plain X-ray of bone of cranium (procedure) Procedure site - Direct (attribute) True Bone structure of cranium Inferred relationship Some 2
Structure of bone marrow of cranium Is a False Bone structure of cranium Inferred relationship Some
Excision of exostosis of skull bone (procedure) Procedure site - Direct (attribute) True Bone structure of cranium Inferred relationship Some 1
Excision of hemangioma of skull (procedure) Procedure site - Indirect (attribute) True Bone structure of cranium Inferred relationship Some 1
Acquired defect of skull (disorder) Finding site True Bone structure of cranium Inferred relationship Some 1
Perinatal skull defect Finding site True Bone structure of cranium Inferred relationship Some 1
Delayed membranous cranial ossification (disorder) Finding site False Bone structure of cranium Inferred relationship Some 2
Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested. Finding site False Bone structure of cranium Inferred relationship Some 3
Holoprosencephaly craniosynostosis syndrome (disorder) Finding site False Bone structure of cranium Inferred relationship Some
Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature. Finding site False Bone structure of cranium Inferred relationship Some
A rare genetic disease characterized by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association. Finding site True Bone structure of cranium Inferred relationship Some 2
A rare genetic disease characterized by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association. Finding site False Bone structure of cranium Inferred relationship Some 3
A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Finding site True Bone structure of cranium Inferred relationship Some 4
Traction technique (procedure) Procedure site - Direct (attribute) False Bone structure of cranium Inferred relationship Some 1
Any osteopathic cranial manipulative medicine method in which the goal of treatment is to achieve a state in which the affected craniosacral structures are equalized in all appropriate planes. Procedure site - Direct (attribute) True Bone structure of cranium Inferred relationship Some 1
Plain X-ray of skull using mobile image intensifier (procedure) Procedure site - Direct (attribute) True Bone structure of cranium Inferred relationship Some 2
X-ray tomography of skull (procedure) Procedure site - Direct (attribute) True Bone structure of cranium Inferred relationship Some 1
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. Finding site False Bone structure of cranium Inferred relationship Some
A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. Finding site False Bone structure of cranium 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. Finding site False Bone structure of cranium Inferred relationship Some 6
Acquired postural plagiocephaly (disorder) 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 True Bone structure of cranium Inferred relationship Some 4
Open depressed fracture of skull (disorder) Finding site True Bone structure of cranium Inferred relationship Some 2
Closed depressed fracture of skull (disorder) Finding site True 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 False Bone structure of cranium Inferred relationship Some 3
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 False Bone structure of cranium Inferred relationship Some 6
A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. Finding site True Bone structure of cranium Inferred relationship Some 3
A very rare acrofacial dysostosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988. Finding site True Bone structure of cranium Inferred relationship Some 3
A very rare acrofacial dysostosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988. Finding site False Bone structure of cranium Inferred relationship Some 4
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 False Bone structure of cranium Inferred relationship Some 3
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 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 False Bone structure of cranium Inferred relationship Some
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 False Bone structure of cranium Inferred relationship Some
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 False Bone structure of cranium Inferred relationship Some
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Finding site False Bone structure of cranium Inferred relationship Some
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 False Bone structure of cranium Inferred relationship Some
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 False Bone structure of cranium Inferred relationship Some
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 False Bone structure of cranium Inferred relationship Some
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
Craniofacial conodysplasia is characterized by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait. Finding site False Bone structure of cranium Inferred relationship Some 5
Craniofacial conodysplasia is characterized by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait. Finding site True Bone structure of cranium Inferred relationship Some 3
A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Finding site False Bone structure of cranium Inferred relationship Some 7
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 False Bone structure of cranium Inferred relationship Some 5
Hunter-McAlpine craniosynostosis is characterized by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter). Finding site False Bone structure of cranium Inferred relationship Some
Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis. Finding site True Bone structure of cranium Inferred relationship Some 2
Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. Finding site False Bone structure of cranium Inferred relationship Some
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 7
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. Finding site False Bone structure of cranium Inferred relationship Some
Somatic dysfunction in which the basisphenoid and basiocciput are held forced together significantly limiting SBS motion. Finding site False Bone structure of cranium Inferred relationship Some 2
Somatic dysfunction of cranium (finding) Finding site True Bone structure of cranium Inferred relationship Some 1
Sphenobasilar synchondrosis lateral strain Finding site False Bone structure of cranium Inferred relationship Some 1
Any of a group of somatic dysfunctions involving primarily the inter-relationship between the basilar portion of the sphenoid (basisphenoid) and the basilar portion of the occiput (basiocciput). Finding site False Bone structure of cranium Inferred relationship Some 2
Sphenobasilar extension Finding site False Bone structure of cranium Inferred relationship Some 1
Any cranial somatic dysfunction resulting in abnormal dural membrane tension. Finding site True Bone structure of cranium Inferred relationship Some 1
A rare syndromic agammaglobulinaemia characterised by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinaemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others. Finding site False Bone structure of cranium Inferred relationship Some
Linear fracture of skull due to birth trauma (disorder) Finding site False Bone structure of cranium Inferred relationship Some 2

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