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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
407876011 Bone structure of head en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
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

791 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 true Inferred relationship Existential restriction modifier (core metadata concept)
Bone structure of head Is a Structure of skull and/or spine and/or bones and/or joints (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Bone structure of head Is a Musculoskeletal structure of head true Inferred relationship Existential restriction modifier (core metadata concept)
Bone structure of head partie de Entire bony skeleton false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Bone structure of head partie de Entire head false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Bone structure of head Is a Axial skeleton structure true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Cleft lip Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 2
Cleft of primary palate Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 2
Bilateral congenital macrostomia Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
Bilateral complete and incomplete cleft lip Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
Goldberg Shprintzen megacolon syndrome (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 7
Bilateral microtia with deafness and cleft palate syndrome (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 5
Familial median cleft of upper and lower lip Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
Abruzzo Erickson syndrome Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 5
Ablepharon macrostomia syndrome Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 10
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 5
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised 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 Existential restriction modifier (core metadata concept) 4
Microcephalus cleft palate syndrome (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 4
Lethal omphalocele with cleft palate syndrome (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 4
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 5
Cleft palate with short stature and vertebral anomaly syndrome (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 6
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 6
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site True Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 5
Kapur Toriello syndrome (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 4
syndrome d'Okamoto Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 4
Pai syndrome Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 5
Bamforth Lazarus syndrome Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 4
Macular coloboma-cleft palate-hallux valgus syndrome is characterised 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 Existential restriction modifier (core metadata concept) 4
Midline cleft of lower lip (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 3
Auricular abnormality, cleft lip, ocular abnormality syndrome Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterised 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 generalised 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 Existential restriction modifier (core metadata concept) 3
Cleft lip retinopathy syndrome (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 5
Cleft lip/palate-deafness-sacral lipoma syndrome is characterised 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 Existential restriction modifier (core metadata concept) 6
Zlotogora Ogur syndrome Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 5
Cleft upper lip, upper jaw AND palate Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 4
Cleft hard palate, central Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 2
Cleft of soft palate (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 2
Submucous cleft of hard palate Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 2
Cleft hard and soft palate Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
XY type gonadal dysgenesis with associated anomalies syndrome Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 4
Cleft hard and soft palate with right cleft lip (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 4
Cleft of hard palate Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 2
Craniofacial microsomia (disorder) Finding site True Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 1
Cleft of hard palate and cleft lip (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
Cleft of soft palate and bilateral cleft lip (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 4
Cleft of soft palate and cleft lip (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
Right cleft lip Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 2
Left cleft lip Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 2
Holzgreve syndrome (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 6
Ankyloblepharon filiforme adnatum with cleft palate syndrome Finding site True Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
Complete cleft of hard palate Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 2
Incomplete cleft palate (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 2
Bifid nose (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 2
Cleft palate and bilateral cleft lip Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 4
Bilateral cleft lip Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
Cleft hard palate with left cleft lip (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
Cleft hard palate with right cleft lip (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
Cleft soft palate with left cleft lip (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
Cleft soft palate with right cleft lip (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
Cleft hard and soft palate with left cleft lip (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 4
Cleft palate with left cleft lip Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
Cleft palate with right cleft lip Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
Complete bilateral cleft palate Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 5
Incomplete bilateral cleft palate (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
Incomplete bilateral cleft lip Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
Cheilognathoschisis Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
Complete bilateral cleft lip (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
Incomplete cleft hard and soft palate (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
Complete cleft hard and soft palate (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
Cleft uvula Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 2
Orofacial cleft Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 2
Pilotto syndrome Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 6
Submucous cleft palate Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 2
Central cleft of soft palate (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 2
Cleft palate, large ears, small head syndrome (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 4
Facial dysmorphism, cleft palate, loose skin syndrome (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 4
Complete left cleft lip (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete right cleft lip (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 2
Incomplete right cleft lip Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 2
Incomplete left cleft lip (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked cleft palate and ankyloglossia (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital left sided macrostomia Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital macrostomia of right side of mouth (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 5
A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of 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 Existential restriction modifier (core metadata concept) 4
Cleft hard and soft palate with cleft lip Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 4
Distal arthrogryposis type 3 (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 4
Bone structure of nasal sinus (body structure) Is a True Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept)
Cleft of right hard palate (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 2
Cleft of left hard palate Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete cleft of right hard and soft palate (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
Complete cleft of left hard and soft palate (disorder) Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
Chondrosarcoma of skull Finding site False Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 1
Metastatic osteosarcoma to bone of head (disorder) Finding site True Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 1
Bone structure of face Is a True Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept)
Primary osteosarcoma of bone of head (disorder) Finding site True Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 1
Custom made nonbioabsorbable craniofacial bone fixation plate (physical object) Has device intended site (attribute) True Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept)
Triopia Finding site True Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 3
Plain X-ray cephalometry, lateral Procedure site - Direct (attribute) True Bone structure of head Inferred relationship Existential restriction modifier (core metadata concept) 1

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Reference Sets

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

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