51863000: Joint structure of suture of skull (body structure)

SNOMED CT Concept\Body structure (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).\Joint structure\...

\Structure of joint of axial skeleton (body structure)\Joint structure of head and neck (body structure)\Joint structure of head\Joint structure of suture of skull

\Synarthrosis structure\Fibrous joint structure\Joint structure of suture of skull

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

\Structure of regional musculoskeletal system (body structure)\Structure of musculoskeletal system of head and/or neck (body structure)\...

\Musculoskeletal structure of head\Bone and/or joint structure of cranium (body structure)\Joint structure of suture of skull
\Musculoskeletal structure of head\Joint structure of head\Joint structure of suture of skull

\Joint structure of head and neck (body structure)\Joint structure of head\Joint structure of suture of skull

\Skeletal system structure\Bone and/or joint structure (body structure)\Joint structure\Structure of joint of axial skeleton (body structure)\Joint structure of head and neck (body structure)\Joint structure of head\Joint structure of suture of skull
\Skeletal system structure\Bone and/or joint structure (body structure)\Joint structure\Synarthrosis structure\Fibrous joint structure\Joint structure of suture of skull
\Skeletal system structure\Articular system structure\Joint structure\Structure of joint of axial skeleton (body structure)\Joint structure of head and neck (body structure)\Joint structure of head\Joint structure of suture of skull
\Skeletal system structure\Articular system structure\Joint structure\Synarthrosis structure\Fibrous joint structure\Joint structure of suture of skull

\Body region structure\Structure of joint region\Joint structure\Structure of joint of axial skeleton (body structure)\Joint structure of head and neck (body structure)\Joint structure of head\Joint structure of suture of skull
\Body region structure\Structure of joint region\Joint structure\Synarthrosis structure\Fibrous joint structure\Joint structure of suture of skull
\Body region structure\Structure of regional musculoskeletal system (body structure)\Structure of musculoskeletal system of head and/or neck (body structure)\Musculoskeletal structure of head\Bone and/or joint structure of cranium (body structure)\Joint structure of suture of skull
\Body region structure\Structure of regional musculoskeletal system (body structure)\Structure of musculoskeletal system of head and/or neck (body structure)\Musculoskeletal structure of head\Joint structure of head\Joint structure of suture of skull
\Body region structure\Structure of regional musculoskeletal system (body structure)\Structure of musculoskeletal system of head and/or neck (body structure)\Joint structure of head and neck (body structure)\Joint structure of head\Joint structure of suture of skull
\Body region structure\Body part structure\Upper body structure\Upper body part structure\Structure of head and/or neck (body structure)\Structure of musculoskeletal system of head and/or neck (body structure)\Musculoskeletal structure of head\Bone and/or joint structure of cranium (body structure)\Joint structure of suture of skull
\Body region structure\Body part structure\Upper body structure\Upper body part structure\Structure of head and/or neck (body structure)\Structure of musculoskeletal system of head and/or neck (body structure)\Musculoskeletal structure of head\Joint structure of head\Joint structure of suture of skull
\Body region structure\Body part structure\Upper body structure\Upper body part structure\Structure of head and/or neck (body structure)\Structure of musculoskeletal system of head and/or neck (body structure)\Joint structure of head and neck (body structure)\Joint structure of head\Joint structure of suture of skull
\Body region structure\Body part structure\Upper body structure\Upper body part structure\Structure of head and/or neck (body structure)\Head structure\Head part\Musculoskeletal structure of head\Bone and/or joint structure of cranium (body structure)\Joint structure of suture of skull
\Body region structure\Body part structure\Upper body structure\Upper body part structure\Structure of head and/or neck (body structure)\Head structure\Head part\Musculoskeletal structure of head\Joint structure of head\Joint structure of suture of skull

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

86355016 Suture of skull en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

496136010 Joint structure of suture of skull en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

789809015 Joint structure of suture of skull (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Joint structure of suture of skull	Is a	Bone structure of cranium	false	Inferred relationship	Some
Joint structure of suture of skull	Is a	Fibrous joint structure	true	Inferred relationship	Some
Joint structure of suture of skull	Is a	Joint structure of head	true	Inferred relationship	Some
Joint structure of suture of skull	partie de	Entire articular system	false	Additional relationship	Some
Joint structure of suture of skull	partie de	Entire bone of cranium	false	Additional relationship	Some
Joint structure of suture of skull	Is a	Bone and/or joint structure of cranium (body structure)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Nonsyndromic premature fusion of multiple sutures.	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	1
Nonsyndromic premature fusion of a single suture.	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	1
Cloverleaf skull syndrome	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	4
Saethre-Chotzen syndrome	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	4
Schprintzen	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	4
Unicoronal craniosynostosis	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	4
Cloverleaf skull syndrome	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	3
Saethre-Chotzen syndrome	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	3
Schprintzen	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	3
Unicoronal craniosynostosis	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	3
Fronto-parietal craniofaciosynostosis	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	3
Interfrontal craniofaciosynostosis	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	3
Spheno-fronto-parietal craniofaciosynostosis (disorder)	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	4
Fibroblast growth factor receptor 3-related craniosynostosis (disorder)	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	2
Parieto-occipital craniosynostosis	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	3
Craniosynostosis syndrome	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	3
Antley-Bixler syndrome	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	5
Interparietal craniosynostosis (disorder)	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	4
Fronto-malar faciosynostosis	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	3
Acrocephalosyndactyly type I	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	4
Carpenter's syndrome	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	2
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	Joint structure of suture of skull	Inferred relationship	Some	5
Baller-Gerold syndrome	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	6
Cutis gyrata syndrome of Beare and Stevenson	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	2
Acrocephalosyndactyly	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	2
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	True	Joint structure of suture of skull	Inferred relationship	Some	2
Acrocephalopolysyndactyly	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	1
Acrocephalopolysyndactyly type III (disorder)	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	1
Acrocephalosyndactyly	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	3
Acrocephalopolysyndactyly type III (disorder)	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	3
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	Joint structure of suture of skull	Inferred relationship	Some	3
Acrocephalopolysyndactyly	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	3
Jackson-Weiss syndrome	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	4
Imperfect fusion of skull	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	2
Antley-Bixler syndrome	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	7
Structure of vomero-premaxillary suture	Is a	True	Joint structure of suture of skull	Inferred relationship	Some
Holoprosencephaly craniosynostosis syndrome (disorder)	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	2
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	Joint structure of suture of skull	Inferred relationship	Some	4
A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies.	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	6
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	6
A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	5
Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	2
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	Joint structure of suture of skull	Inferred relationship	Some	12
Craniosynostosis with facial dysmorphism and brachydactyly syndrome	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	5
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	Joint structure of suture of skull	Inferred relationship	Some	5
Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	3
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	Joint structure of suture of skull	Inferred relationship	Some	4
Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	4
A rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus.	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	3
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	6
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	10
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	Joint structure of suture of skull	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	Joint structure of suture of skull	Inferred relationship	Some	7
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	Joint structure of suture of skull	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	Joint structure of suture of skull	Inferred relationship	Some	6
A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, under ossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small, pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed.	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	5
acrocéphalopolysyndactylie de type IV	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	3
syndrome de Summitt	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	3
A rare multiple congenital anomalies syndrome characterised by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and abnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on.	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	6
Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (including syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	1
synostose lambdoïde familiale	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	2
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	True	Joint structure of suture of skull	Inferred relationship	Some	1
A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	1
syndrome de Summitt	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	1
Crouzon disease is characterised by craniosynostosis and facial hypoplasia.	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	2
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	True	Joint structure of suture of skull	Inferred relationship	Some	3
Holoprosencephaly craniosynostosis syndrome (disorder)	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	1
Acrocephalosyndactyly type I	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	1
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	True	Joint structure of suture of skull	Inferred relationship	Some	3
Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	4
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	True	Joint structure of suture of skull	Inferred relationship	Some	3
Baller-Gerold syndrome	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	2
A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, under ossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small, pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed.	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	1
acrocéphalopolysyndactylie de type IV	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	2
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	True	Joint structure of suture of skull	Inferred relationship	Some	2
A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies.	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	1
A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay.	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	1
Craniosynostosis with facial dysmorphism and brachydactyly syndrome	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	2
Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	3
Jackson-Weiss syndrome	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	2
A rare multiple congenital anomalies syndrome characterised by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and abnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on.	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	4
Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	2
A rare syndromic craniosynostosis characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (e.g. finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported.	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	2
Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	2
FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophthalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoiesis may also be associated.	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	2
A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987.	Finding site	False	Joint structure of suture of skull	Inferred relationship	Some	5
A rare frontonasal dysplasia malformation syndrome characterised by an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts, and bilateral, symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991.	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	3
Dolichocephalic dwarfism	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	1
Long narrow head	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	1
Sutures touching without overlapping	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	1
Reducible suture overlap	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	1
Fixed suture overlap	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	1
Fibroblast growth factor receptor 3-related craniosynostosis (disorder)	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	1
Pfeiffer syndrome type 1 (disorder)	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	2
Pfeiffer syndrome type 2 (disorder)	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	2
Pfeiffer syndrome type 3 (disorder)	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	2
A rare genetic multiple congenital anomalies/dysmorphic syndrome with variable intellectual disability characterized by abnormal head shape/metopic ridging and facial dysmorphism (which may include arched eyebrows, ptosis, downslanting palpebral fissures, epicanthal folds, and short upturned nose). Many patients present variable global developmental delay and/or autism spectrum disorder. Additional reported features are cardiac, skeletal, or urogenital anomalies. Brain imaging may show agenesis of the corpus callosum.	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, moderate to severe intellectual disability, dysmorphic features including craniosynostosis, micro-/retrognathia, cleft palate, and brachydactyly, and short stature. Seizures, skeletal anomalies (such as arthrogryposis, gracile bones, and pathological fractures), and renal abnormalities have also been described. Cerebral MRI may show periventricular white matter changes and ventriculomegaly.	Finding site	True	Joint structure of suture of skull	Inferred relationship	Some	1

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Reference Sets

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

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Id	Description	Lang	Type	Status	Case?	Module
86355016	Suture of skull	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
496136010	Joint structure of suture of skull	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
789809015	Joint structure of suture of skull (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core