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272679001: Bone structure of head (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
407876011 Bone structure of head en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
665237018 Bone structure of head (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3969207010 Cranial and/or facial bone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1008601000241113 os du crâne et/ou de la face fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1008621000241115 structure osseuse de la tête fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1008631000241118 os crâniens et/ou faciaux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


863 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Bone structure of head Is a Bone structure of head and/or neck (body structure) true Inferred relationship Some
Bone structure of head Is a Structure of skull and/or spine and/or bones and/or joints (body structure) false Inferred relationship Some
Bone structure of head Is a Musculoskeletal structure of head true Inferred relationship Some
Bone structure of head partie de Entire bony skeleton false Additional relationship Some
Bone structure of head partie de Entire head false Additional relationship Some
Bone structure of head Is a Axial skeleton structure true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Cleft lip Finding site False Bone structure of head Inferred relationship Some 2
Cleft of primary palate Finding site False Bone structure of head Inferred relationship Some 2
Bilateral congenital macrostomia Finding site False Bone structure of head Inferred relationship Some 3
Bilateral complete and incomplete cleft lip Finding site False Bone structure of head Inferred relationship Some 3
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum). Finding site False Bone structure of head Inferred relationship Some 7
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. Finding site False Bone structure of head Inferred relationship Some 5
A rare developmental defect during embryogenesis characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Finding site False Bone structure of head Inferred relationship Some 3
An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. Finding site False Bone structure of head Inferred relationship Some 5
An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome. Finding site False Bone structure of head Inferred relationship Some 4
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. Finding site True Bone structure of head Inferred relationship Some 10
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. Finding site False Bone structure of head Inferred relationship Some 5
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment. Finding site False Bone structure of head Inferred relationship Some 4
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983. Finding site False Bone structure of head Inferred relationship Some 4
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of omphalocele and cleft palate. Other reported features include cleft lip, bifid uvula, bilateral talipes equinovarus, bicornuate uterus, and hydrocephalus internus. The condition is lethal in infancy. Finding site False Bone structure of head Inferred relationship Some 4
A rare multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed. Finding site False Bone structure of head Inferred relationship Some 5
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993. Finding site False Bone structure of head Inferred relationship Some 4
A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971. Finding site False Bone structure of head Inferred relationship Some 5
This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. Finding site False Bone structure of head Inferred relationship Some 6
A rare multiple congenital malformation syndrome, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicoureteral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastroesophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated. Finding site False Bone structure of head Inferred relationship Some 6
A rare ectodermal dysplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. Finding site True Bone structure of head Inferred relationship Some 8
Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia. Finding site False Bone structure of head Inferred relationship Some 5
Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. Finding site False Bone structure of head Inferred relationship Some 4
syndrome d'Okamoto Finding site False Bone structure of head Inferred relationship Some 4
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 head Inferred relationship Some 5
A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. Finding site False Bone structure of head Inferred relationship Some 4
Macular coloboma-cleft palate-hallux valgus syndrome is characterized by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive. Finding site False Bone structure of head Inferred relationship Some 4
A rare median facial cleft characterized by median cleft of the lower lip (ranging in extent from a notch in the vermilion to a complete cleft involving the tongue, lower lip, and chin, and extending to the cervical region), median cleft of the mandible (ranging from notching to a complete cleft), and anomaly of the tongue including bifid tongue and tongue tie. Associated features in severe cases may include absent hyoid, thyroid cartilage, and manubrium sterni, as well as atrophic neck muscles. Finding site False Bone structure of head Inferred relationship Some 2
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 head Inferred relationship Some 4
Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia. Finding site False Bone structure of head Inferred relationship Some 3
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities. Finding site False Bone structure of head Inferred relationship Some 3
Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977. Finding site False Bone structure of head Inferred relationship Some 3
An exceedingly rare association characterized by cleft lip and progressive retinopathy. Finding site False Bone structure of head Inferred relationship Some 3
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. Finding site False Bone structure of head Inferred relationship Some 5
Cleft lip/palate-deafness-sacral lipoma syndrome is characterized by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. Finding site False Bone structure of head Inferred relationship Some 6
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. Finding site False Bone structure of head Inferred relationship Some 5
Cleft upper lip, upper jaw AND palate Finding site False Bone structure of head Inferred relationship Some 4
Cleft hard palate, central Finding site False Bone structure of head Inferred relationship Some 2
Cleft of soft palate Finding site False Bone structure of head Inferred relationship Some 2
Submucous cleft of hard palate Finding site False Bone structure of head Inferred relationship Some 2
Cleft hard and soft palate Finding site False Bone structure of head Inferred relationship Some 3
A rare syndrome with 46,XY disorder of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980. Finding site False Bone structure of head Inferred relationship Some 4
Cleft hard and soft palate with right cleft lip (disorder) Finding site False Bone structure of head Inferred relationship Some 4
Cleft of hard palate (disorder) Finding site False Bone structure of head Inferred relationship Some 2
Craniofacial microsomia Finding site True Bone structure of head Inferred relationship Some 1
Cleft of hard palate and cleft lip (disorder) Finding site False Bone structure of head Inferred relationship Some 3
Cleft of soft palate and bilateral cleft lip (disorder) Finding site False Bone structure of head Inferred relationship Some 4
Cleft of soft palate and cleft lip (disorder) Finding site False Bone structure of head Inferred relationship Some 3
Right cleft lip (disorder) Finding site False Bone structure of head Inferred relationship Some 2
Left cleft lip Finding site False Bone structure of head Inferred relationship Some 2
Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988. Finding site False Bone structure of head Inferred relationship Some 6
A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the gray line, associated with cleft lip and palate. Eye examination is otherwise normal. Finding site True Bone structure of head Inferred relationship Some 3
Complete cleft of hard palate Finding site False Bone structure of head Inferred relationship Some 2
Incomplete cleft palate (disorder) Finding site False Bone structure of head Inferred relationship Some 2
A rare congenital nose and cavum anomaly characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia; other malformations such as hypertelorbitism and midline clefts of the lip may also be associated. Finding site False Bone structure of head Inferred relationship Some 2
Cleft palate and bilateral cleft lip (disorder) Finding site False Bone structure of head Inferred relationship Some 4
Bilateral cleft lip Finding site False Bone structure of head Inferred relationship Some 3
Cleft hard palate with left cleft lip (disorder) Finding site False Bone structure of head Inferred relationship Some 3
Cleft hard palate with right cleft lip (disorder) Finding site False Bone structure of head Inferred relationship Some 3
Cleft soft palate with left cleft lip Finding site False Bone structure of head Inferred relationship Some 3
Cleft soft palate with right cleft lip (disorder) Finding site False Bone structure of head Inferred relationship Some 3
Cleft hard and soft palate with left cleft lip (disorder) Finding site False Bone structure of head Inferred relationship Some 4
Cleft palate with left cleft lip Finding site False Bone structure of head Inferred relationship Some 3
Cleft palate with right cleft lip Finding site False Bone structure of head Inferred relationship Some 3
Complete bilateral cleft palate Finding site False Bone structure of head Inferred relationship Some 5
Incomplete bilateral cleft palate Finding site False Bone structure of head Inferred relationship Some 3
Incomplete bilateral cleft lip Finding site False Bone structure of head Inferred relationship Some 3
Cheilognathoschisis Finding site False Bone structure of head Inferred relationship Some 3
Complete bilateral cleft lip Finding site False Bone structure of head Inferred relationship Some 3
Incomplete cleft hard and soft palate Finding site False Bone structure of head Inferred relationship Some 3
Complete cleft hard and soft palate Finding site False Bone structure of head Inferred relationship Some 3
Cleft uvula Finding site False Bone structure of head Inferred relationship Some 2
Orofacial cleft (disorder) Finding site False Bone structure of head Inferred relationship Some 2
Pilotto syndrome Finding site False Bone structure of head Inferred relationship Some 3
PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. Finding site False Bone structure of head Inferred relationship Some 6
Submucous cleft palate Finding site False Bone structure of head Inferred relationship Some 2
Central cleft of soft palate (disorder) Finding site False Bone structure of head Inferred relationship Some 2
Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed. Finding site False Bone structure of head Inferred relationship Some 4
Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (including elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss. Finding site False Bone structure of head Inferred relationship Some 4
Complete left cleft lip (disorder) Finding site False Bone structure of head Inferred relationship Some 2
Complete right cleft lip (disorder) Finding site False Bone structure of head Inferred relationship Some 2
Incomplete right cleft lip Finding site False Bone structure of head Inferred relationship Some 2
Incomplete left cleft lip (disorder) Finding site False Bone structure of head Inferred relationship Some 2
X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported. Finding site False Bone structure of head Inferred relationship Some 3
Congenital macrostomia of left side of mouth (disorder) Finding site False Bone structure of head Inferred relationship Some 3
Congenital macrostomia of right side of mouth (disorder) Finding site False Bone structure of head Inferred relationship Some 3
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by 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. Finding site False Bone structure of head Inferred relationship Some 5
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. Finding site False Bone structure of head Inferred relationship Some 4
Cleft hard and soft palate with cleft lip Finding site False Bone structure of head Inferred relationship Some 4
Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition. Finding site False Bone structure of head Inferred relationship Some 4
Bone structure of nasal sinus Is a True Bone structure of head Inferred relationship Some
Cleft of right hard palate (disorder) Finding site False Bone structure of head Inferred relationship Some 2
Cleft of left hard palate Finding site False Bone structure of head Inferred relationship Some 2
Complete cleft of right hard and soft palate Finding site False Bone structure of head Inferred relationship Some 3
Complete cleft of left hard and soft palate (disorder) Finding site False Bone structure of head Inferred relationship Some 3
Chondrosarcoma of skull (disorder) Finding site False Bone structure of head Inferred relationship Some 1
Metastatic osteosarcoma to bone of head (disorder) Finding site True Bone structure of head Inferred relationship Some 1
Bone structure of face Is a True Bone structure of head Inferred relationship Some
Primary osteosarcoma of bone of head (disorder) Finding site True Bone structure of head Inferred relationship Some 1
Custom made nonbioabsorbable craniofacial bone fixation plate (physical object) This attribute represents the site where the device is intended to reside in or on the body. True Bone structure of head Inferred relationship Some
A rare developmental defect during embryogenesis characterized by unilateral duplication of an eye which may appear as a synophthalmic eye in a single orbit or as two separate unilateral eyes, each in a separate orbit. The malformation is always associated with other anomalies of the central nervous system (such as porencephaly, meningocele, or arachnoidal cysts) and with craniofacial abnormalities. A proboscis is often found. Clinically, moderate mental retardation and epilepsy are typical. Finding site True Bone structure of head Inferred relationship Some 3
Plain X-ray cephalometry, lateral (procedure) Procedure site - Direct (attribute) True Bone structure of head Inferred relationship Some 1

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

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