272679001: Bone structure of head (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

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

\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
\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
\Skeletal system structure\Axial skeleton structure\Bone structure of head

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 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	del af	Entire bony skeleton	false	Additional relationship	Some
Bone structure of head	del af	Entire head (body structure)	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
Parietal encephalocele (disorder)	Finding site	False	Bone structure of head	Inferred relationship	Some	3
Kongenitte kæbedeformiteter	Finding site	False	Bone structure of head	Inferred relationship	Some	2
Occipital encephalocele	Finding site	False	Bone structure of head	Inferred relationship	Some	3
Opocephalus	Finding site	False	Bone structure of head	Inferred relationship	Some	2
Encephalomyelocele	Finding site	False	Bone structure of head	Inferred relationship	Some	2
Cyclops hypognathus	Finding site	False	Bone structure of head	Inferred relationship	Some	2
Hydroencefalocele	Finding site	False	Bone structure of head	Inferred relationship	Some	2
Nasopharyngeal encephalocele	Finding site	False	Bone structure of head	Inferred relationship	Some	4
Encephalocele	Finding site	False	Bone structure of head	Inferred relationship	Some	2
Exencephaly	Finding site	False	Bone structure of head	Inferred relationship	Some	4
Fronto-naso-ethmoidal dysostosis	Finding site	False	Bone structure of head	Inferred relationship	Some	2
Congenital cerebral hernia	Finding site	False	Bone structure of head	Inferred relationship	Some	3
Localised congenital skull defect	Finding site	False	Bone structure of head	Inferred relationship	Some	2
Encephalocele of vertex (disorder)	Finding site	False	Bone structure of head	Inferred relationship	Some	2
Nasal encephalocele	Finding site	False	Bone structure of head	Inferred relationship	Some	4
Vomero-premaxillary faciosynostosis	Finding site	False	Bone structure of head	Inferred relationship	Some	3
Craniolacunia	Finding site	False	Bone structure of head	Inferred relationship	Some	2
Congenital abnormality of skull and face bones	Finding site	False	Bone structure of head	Inferred relationship	Some	2
Fronto-frontal dysostosis	Finding site	False	Bone structure of head	Inferred relationship	Some	2
Frontal encephalocele	Finding site	False	Bone structure of head	Inferred relationship	Some	2
Spheno-frontal dysostosis	Finding site	False	Bone structure of head	Inferred relationship	Some	3
Nasofrontal encephalocele	Finding site	False	Bone structure of head	Inferred relationship	Some	5
Nasopharyngeal encephalocele	Finding site	False	Bone structure of head	Inferred relationship	Some	5
Nasal encephalocele	Finding site	False	Bone structure of head	Inferred relationship	Some	5
Fronto-frontal dysostosis	Finding site	False	Bone structure of head	Inferred relationship	Some	3
Encephalocele of orbit	Finding site	False	Bone structure of head	Inferred relationship	Some	4
Occipital encephalocele	Finding site	False	Bone structure of head	Inferred relationship	Some	4
Encephalocystocele	Finding site	False	Bone structure of head	Inferred relationship	Some	3
Cleidocranial dysostosis	Finding site	False	Bone structure of head	Inferred relationship	Some	9
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 head	Inferred relationship	Some	11
Opocephalus	Finding site	True	Bone structure of head	Inferred relationship	Some	1
Cyclops hypognathus	Finding site	True	Bone structure of head	Inferred relationship	Some	1
radiografisk undersøgelse af kraniet	Procedure site - Direct (attribute)	False	Bone structure of head	Inferred relationship	Some	2
diagnostisk radiografi af orbitae	Procedure site - Direct (attribute)	False	Bone structure of head	Inferred relationship	Some	3
Cyclops	Finding site	True	Bone structure of head	Inferred relationship	Some	1
Kongenitte kæbedeformiteter	Finding site	False	Bone structure of head	Inferred relationship	Some	3
Congenital abnormality of skull and face bones	Finding site	True	Bone structure of head	Inferred relationship	Some	1
radiografisk undersøgelse af orbital knogle	Procedure site - Direct (attribute)	False	Bone structure of head	Inferred relationship	Some	2
radiologisk undersøgelse af processus mastoideus, tre eller flere projektioner per side	Procedure site - Direct (attribute)	False	Bone structure of head	Inferred relationship	Some	2
Diagnostisk radiografisk undersøgelse af optiske foramina	Procedure site - Direct (attribute)	False	Bone structure of head	Inferred relationship	Some	2
A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed.	Finding site	False	Bone structure of head	Inferred relationship	Some	5
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.	Finding site	False	Bone structure of head	Inferred relationship	Some	7
Lissencephaly syndrome, Norman-Roberts type is characterized by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.	Finding site	False	Bone structure of head	Inferred relationship	Some	5
Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterised by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.	Finding site	False	Bone structure of head	Inferred relationship	Some	7
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 head	Inferred relationship	Some	4
Benign osteogenic neoplasm of bone of head (disorder)	Finding site	True	Bone structure of head	Inferred relationship	Some	1
A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed.	Finding site	True	Bone structure of head	Inferred relationship	Some	2
Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterised by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.	Finding site	True	Bone structure of head	Inferred relationship	Some	3
Exencephaly	Finding site	True	Bone structure of head	Inferred relationship	Some	2
Lissencephaly syndrome, Norman-Roberts type is characterized by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.	Finding site	True	Bone structure of head	Inferred relationship	Some	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.	Finding site	True	Bone structure of head	Inferred relationship	Some	2
Cleidocranial dysostosis	Finding site	True	Bone structure of head	Inferred relationship	Some	3
Encephalocele of orbit	Finding site	False	Bone structure of head	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 head	Inferred relationship	Some	4
Rhinocephaly	Finding site	False	Bone structure of head	Inferred relationship	Some	3
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 head	Inferred relationship	Some	4
Bone structure of auditory ossicle (body structure)	Is a	True	Bone structure of head	Inferred relationship	Some
Bone structure of jaw (body structure)	Is a	False	Bone structure of head	Inferred relationship	Some
Reconstruction of cranial and facial bones using autograft (procedure)	Procedure site - Direct (attribute)	True	Bone structure of head	Inferred relationship	Some	1
Giant cell tumor of craniofacial bones	Finding site	True	Bone structure of head	Inferred relationship	Some	1
Osteosarcoma of bone of head (disorder)	Finding site	True	Bone structure of head	Inferred relationship	Some	1
Plain X-ray orthodontic cephalometry (procedure)	Procedure site - Direct (attribute)	True	Bone structure of head	Inferred relationship	Some	1
Open fractures involving head with neck	Finding site	True	Bone structure of head	Inferred relationship	Some	1
Craniofacial cleft (disorder)	Finding site	False	Bone structure of head	Inferred relationship	Some	1
Cleft palate	Finding site	False	Bone structure of head	Inferred relationship	Some	2
Cheilognathoprosoposchisis	Finding site	False	Bone structure of head	Inferred relationship	Some	3
Congenital macrostomia	Finding site	False	Bone structure of head	Inferred relationship	Some	3
Cleft lip sequence	Finding site	False	Bone structure of head	Inferred relationship	Some	2
Bilateral cleft of primary palate	Finding site	False	Bone structure of head	Inferred relationship	Some	2
Central cleft lip	Finding site	False	Bone structure of head	Inferred relationship	Some	2
Bilateral complete cleft palate with cleft lip	Finding site	False	Bone structure of head	Inferred relationship	Some	6
delvis bilateral ganespalte med læbespalte	Finding site	False	Bone structure of head	Inferred relationship	Some	4
Central complete cleft palate with cleft lip	Finding site	False	Bone structure of head	Inferred relationship	Some	3
Central incomplete cleft palate with cleft lip	Finding site	False	Bone structure of head	Inferred relationship	Some	3
Cleft hard palate with cleft lip, bilateral	Finding site	False	Bone structure of head	Inferred relationship	Some	4
Central complete cleft palate	Finding site	False	Bone structure of head	Inferred relationship	Some	3
Cleft hard palate, bilateral	Finding site	False	Bone structure of head	Inferred relationship	Some	2
Cleft soft palate, bilateral	Finding site	False	Bone structure of head	Inferred relationship	Some	2
Complete cleft of soft palate	Finding site	False	Bone structure of head	Inferred relationship	Some	2
Incomplete cleft of soft palate	Finding site	False	Bone structure of head	Inferred relationship	Some	2
Occult submucous cleft palate (disorder)	Finding site	False	Bone structure of head	Inferred relationship	Some	2
Midline facial cleft - Tessier cleft 0	Finding site	False	Bone structure of head	Inferred relationship	Some	1
Midline facial cleft - Tessier cleft 14	Finding site	False	Bone structure of head	Inferred relationship	Some	1
Midline facial cleft - Tessier cleft 30	Finding site	False	Bone structure of head	Inferred relationship	Some	1
Paramedian facial cleft - Tessier cleft 1 (disorder)	Finding site	False	Bone structure of head	Inferred relationship	Some	1
Paramedian facial cleft - Tessier cleft 2	Finding site	False	Bone structure of head	Inferred relationship	Some	1
Paramedian facial cleft - Tessier cleft 3	Finding site	False	Bone structure of head	Inferred relationship	Some	1
Supraorbital facial cleft - Tessier cleft 8	Finding site	False	Bone structure of head	Inferred relationship	Some	1
Supraorbital facial cleft - Tessier cleft 9	Finding site	False	Bone structure of head	Inferred relationship	Some	1
Supraorbital facial cleft - Tessier cleft 10	Finding site	False	Bone structure of head	Inferred relationship	Some	1
Supraorbital facial cleft - Tessier cleft 11	Finding site	False	Bone structure of head	Inferred relationship	Some	1
Supraorbital facial cleft - Tessier cleft 12	Finding site	False	Bone structure of head	Inferred relationship	Some	1
Supraorbital facial cleft - Tessier cleft 13	Finding site	False	Bone structure of head	Inferred relationship	Some	1
Infraorbital facial cleft - Tessier cleft 4	Finding site	False	Bone structure of head	Inferred relationship	Some	1
Infraorbital facial cleft - Tessier cleft 5	Finding site	False	Bone structure of head	Inferred relationship	Some	1
Infraorbital facial cleft - Tessier cleft 6	Finding site	False	Bone structure of head	Inferred relationship	Some	1
Infraorbital facial cleft - Tessier cleft 7	Finding site	False	Bone structure of head	Inferred relationship	Some	1
Central incomplete cleft palate	Finding site	False	Bone structure of head	Inferred relationship	Some	3
Cheilognathouranoschisis	Finding site	False	Bone structure of head	Inferred relationship	Some	3
Cleft palate with cleft lip	Finding site	False	Bone structure of head	Inferred relationship	Some	3
Cleft lip	Finding site	False	Bone structure of head	Inferred relationship	Some	2

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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
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
3318111000005117	Knoglestruktur af hovedet	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)