67798003: Congenital premature fusion (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2024. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
kongenit præmatur sammenvoksning	Is a	kongenit abnorm sammenvoksning	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	6
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.	Associated morphology	False	kongenit præmatur sammenvoksning	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).	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.	Associated morphology	False	kongenit præmatur sammenvoksning	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.	Associated morphology	False	kongenit præmatur sammenvoksning	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.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	6
Skafocefali	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
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.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	5
Craniosynostosis fibular aplasia syndrome (disorder)	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
A rare developmental defect during embryogenesis characterized by premature closure of metopic sutures and/or other sutures, short stature, and developmental delay. Dysmorphic features include trigonocephaly, metopic ridge, narrow forehead, bitemporal narrowing, arched eyebrows, hypotelorism, deep-set eyes, epicanthal folds, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (e.g. brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Acrocephalopolysyndactyly type IV	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
Summitt syndrome	Associated morphology	False	kongenit præmatur sammenvoksning	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.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	6
Solitary median maxillary central incisor syndrome	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
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.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Familial lambdoid synostosis	Associated morphology	False	kongenit præmatur sammenvoksning	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).	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
A rare, multiple congenital anomalies syndrome with intellectual disability commonly characterized by facial dysmorphism (e.g. sagittal craniosynostosis, hypertelorism, strabismus, low-set dysplastic ears, retrognathia or micrognathia, mandibular ankyloses, cleft palate, aplasia uvulae), congenital heart defects (e.g. atrioventricular septal defect, anomalous venous return), genital anomalies (e.g. cryptorchidism, microphallus), as well as growth delay and intellectual disability. In some cases, tracheobronchial anomalies, large joint contractures, syndactyly, rib anomalies and hypoplastic kidneys are reported. Rarely, no cardiac anomaly may be reported.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Summitt syndrome	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Saethre-Chotzen syndrome	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Disease with characteristics of craniosynostosis and facial hypoplasia. Craniosynostosis is variable but many sutures are usually involved. Facial anomalies include ocular hypertelorism, small beaked nose, proptosis, exophthalmos, hypoplastic maxilla and mandibular prognathism. Caused by mutations of the fibroblast growth factor receptor FGFR2 (10q25.3-q26) with 80% being located to the immunoglobulin (Ig)-like domain III (IgIII domain) of the extracellular region and an additional 20% of mutations being located in the IgI-IgII domains, transmembrane and tyrosine kinase regions. The disease is transmitted in an autosomal dominant manner with variable penetrance.	Associated morphology	False	kongenit præmatur sammenvoksning	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.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
Craniosynostosis fibular aplasia syndrome (disorder)	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Holoprosencephaly craniosynostosis syndrome (disorder)	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Acrocephalosyndactyly type I	Associated morphology	False	kongenit præmatur sammenvoksning	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.	Associated morphology	False	kongenit præmatur sammenvoksning	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.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Closed ductus venosus	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Vomero-premaxillary faciosynostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.	Associated morphology	False	kongenit præmatur sammenvoksning	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.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
Baller-Gerold syndrome	Associated morphology	False	kongenit præmatur sammenvoksning	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.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Complete perimaxillary faciosynostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
A rare developmental defect during embryogenesis characterized by premature closure of metopic sutures and/or other sutures, short stature, and developmental delay. Dysmorphic features include trigonocephaly, metopic ridge, narrow forehead, bitemporal narrowing, arched eyebrows, hypotelorism, deep-set eyes, epicanthal folds, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (e.g. brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Acrocephalopolysyndactyly type IV	Associated morphology	False	kongenit præmatur sammenvoksning	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.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.	Associated morphology	False	kongenit præmatur sammenvoksning	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.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Craniosynostosis with facial dysmorphism and brachydactyly syndrome	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	4
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.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
Jackson-Weiss syndrome	Associated morphology	False	kongenit præmatur sammenvoksning	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.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	4
Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
A rare genetic cranial malformation syndrome with characteristics of 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 (for example 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. There is evidence this disease is caused by homozygous mutation in the IL11RA gene on chromosome 9p13.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
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. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
A rare genetic lethal primary bone dysplasia with characteristics of 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 hematopoesis may also be associated.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder)	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	5
A rare frontonasal dysplasia malformation syndrome with characteristics of 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.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
A syndromic craniosynostosis with a wide range of clinical findings even within a single family. Most have coronal synostosis however synostosis of other sutures, all sutures, macrocephaly without craniosynostosis, or a normal skull may be observed. Bilateral coronal synostosis usually results in brachycephaly with temporal bossing and facial symmetry. Craniofacial findings include widely spaced eyes, ptosis or proptosis, strabismus, and high arched palate or cleft lip/palate. Over 70% of patients have some form of hearing loss. Additional extracranial manifestations include otitis media, brachydactyly, broad toes, broad thumbs, clinodactyly, developmental delay and intellectual disability. Caused by mutation in the FGFR3 gene (4p16.3), encoding fibroblast growth factor receptor 3, which is required for normal skeleton development. Inheritance is autosomal dominant.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Posterior perimaxillary faciosynostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Dolichocephalic dwarfism	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Long narrow head	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Antley-Bixler syndrome	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Antley-Bixler syndrome	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
Parieto-occipital craniosynostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Familial lambdoid synostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Spheno-fronto-parietal craniofaciosynostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Spheno-fronto-parietal craniofaciosynostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Fronto-malar faciosynostosis	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	4
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	5
Cloverleaf skull syndrome (disorder)	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1
Cloverleaf skull syndrome (disorder)	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder)	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder)	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	3
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder)	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	4
Pfeiffer syndrome type 1 (disorder)	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Pfeiffer syndrome type 2 (disorder)	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Pfeiffer syndrome type 3 (disorder)	Associated morphology	False	kongenit præmatur sammenvoksning	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.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	2
Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterised by the premature fusion of the metopic suture.	Associated morphology	False	kongenit præmatur sammenvoksning	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.	Associated morphology	False	kongenit præmatur sammenvoksning	Inferred relationship	Some	1

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Id	Description	Lang	Type	Status	Case?	Module
112607017	Congenital premature fusion	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
112609019	Congenital premature closure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
807561017	Congenital premature fusion (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2510561000005118	kongenit præmatur sammenvoksning	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)