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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:

    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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital premature fusion Is a Congenital abnormal fusion false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Premature closure of foramen ovale Associated morphology False Congenital premature fusion Inferred relationship Some 1
    Scaphycephaly Associated morphology False Congenital premature fusion Inferred relationship Some
    Premature closure of foramen ovale Associated morphology False Congenital premature fusion Inferred relationship Some 1
    Acrocephalosyndactyly type V (disorder) Associated morphology False Congenital premature fusion Inferred relationship Some 1
    Interparietal craniosynostosis (disorder) Associated morphology False Congenital premature fusion Inferred relationship Some 2
    Parieto-occipital craniosynostosis Associated morphology False Congenital premature fusion Inferred relationship Some 2
    Spheno-fronto-parietal craniofaciosynostosis (disorder) Associated morphology False Congenital premature fusion Inferred relationship Some 3
    Cloverleaf skull syndrome Associated morphology False Congenital premature fusion Inferred relationship Some 2
    Saethre-Chotzen syndrome Associated morphology False Congenital premature fusion Inferred relationship Some 2
    Bicoronal craniosynostosis Associated morphology False Congenital premature fusion Inferred relationship Some 2
    Craniosynostosis syndrome Associated morphology False Congenital premature fusion Inferred relationship Some 1
    Brachycephaly Associated morphology False Congenital premature fusion Inferred relationship Some 2
    Fronto-parietal craniofaciosynostosis Associated morphology False Congenital premature fusion Inferred relationship Some 2
    Fibroblast growth factor receptor 3-related craniosynostosis (disorder) Associated morphology False Congenital premature fusion Inferred relationship Some 1
    Interfrontal craniofaciosynostosis Associated morphology False Congenital premature fusion Inferred relationship Some 2
    Unicoronal craniosynostosis Associated morphology False Congenital premature fusion Inferred relationship Some 2
    Baller-Gerold syndrome Associated morphology False Congenital premature fusion Inferred relationship Some 4
    Crouzon disease is characterised by craniosynostosis and facial hypoplasia. Associated morphology False Congenital premature fusion Inferred relationship Some 3
    Apert's syndrome Associated morphology False Congenital premature fusion Inferred relationship Some 5
    Schprintzen Associated morphology False Congenital premature fusion Inferred relationship Some 2
    Fronto-malar faciosynostosis Associated morphology False Congenital premature fusion Inferred relationship Some 2
    Antley-Bixler syndrome Associated morphology False Congenital premature fusion Inferred relationship Some 4
    Cloverleaf skull syndrome Associated morphology False Congenital premature fusion Inferred relationship Some 2
    Bicoronal craniosynostosis Associated morphology False Congenital premature fusion Inferred relationship Some 2
    Craniosynostosis syndrome Associated morphology False Congenital premature fusion Inferred relationship Some 1
    Brachycephaly Associated morphology False Congenital premature fusion Inferred relationship Some 2
    Unicoronal craniosynostosis Associated morphology False Congenital premature fusion Inferred relationship Some 2
    Saethre-Chotzen syndrome Associated morphology False Congenital premature fusion Inferred relationship Some 2
    Schprintzen Associated morphology False Congenital premature fusion Inferred relationship Some 2
    Fibroblast growth factor receptor 3-related craniosynostosis (disorder) Associated morphology False Congenital premature fusion Inferred relationship Some 1
    Acrocephalosyndactyly type I Associated morphology False Congenital premature fusion Inferred relationship Some 2
    Acrocephaly Associated morphology False Congenital premature fusion Inferred relationship Some 1
    Acrocephaly Associated morphology False Congenital premature fusion Inferred relationship Some 2
    Acrocephalosyndactyly type I Associated morphology False Congenital premature fusion Inferred relationship Some 2
    Anterior perimaxillary faciosynostosis Associated morphology False Congenital premature fusion Inferred relationship Some 3
    Bicoronal craniosynostosis Associated morphology False Congenital premature fusion Inferred relationship Some 3
    Fronto-parietal craniofaciosynostosis Associated morphology False Congenital premature fusion Inferred relationship Some 3
    Interfrontal craniofaciosynostosis Associated morphology False Congenital premature fusion Inferred relationship Some 3
    Crouzon disease is characterised by craniosynostosis and facial hypoplasia. Associated morphology False Congenital premature fusion Inferred relationship Some 5
    Spheno-fronto-parietal craniofaciosynostosis (disorder) Associated morphology False Congenital premature fusion Inferred relationship Some 4
    Fibroblast growth factor receptor 3-related craniosynostosis (disorder) Associated morphology False Congenital premature fusion Inferred relationship Some 2
    Parieto-occipital craniosynostosis Associated morphology False Congenital premature fusion Inferred relationship Some 3
    Craniosynostosis syndrome Associated morphology False Congenital premature fusion Inferred relationship Some 3
    Acrocephaly Associated morphology False Congenital premature fusion Inferred relationship Some 3
    Acrocephaly Associated morphology False Congenital premature fusion Inferred relationship Some 4
    Antley-Bixler syndrome Associated morphology False Congenital premature fusion Inferred relationship Some 5
    Brachycephaly Associated morphology False Congenital premature fusion Inferred relationship Some 4
    Interparietal craniosynostosis (disorder) Associated morphology False Congenital premature fusion Inferred relationship Some 2
    Fronto-malar faciosynostosis Associated morphology False Congenital premature fusion Inferred relationship Some 3
    Cloverleaf skull syndrome Associated morphology False Congenital premature fusion Inferred relationship Some 4
    Saethre-Chotzen syndrome Associated morphology False Congenital premature fusion Inferred relationship Some 4
    Acrocephalosyndactyly type I Associated morphology False Congenital premature fusion Inferred relationship Some 4
    Schprintzen Associated morphology False Congenital premature fusion Inferred relationship Some 4
    Carpenter's syndrome Associated morphology False Congenital premature fusion Inferred relationship Some 2
    Unicoronal craniosynostosis Associated morphology False Congenital premature fusion 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 Congenital premature fusion Inferred relationship Some 5
    Baller-Gerold syndrome Associated morphology False Congenital premature fusion Inferred relationship Some 6
    Cutis gyrata syndrome of Beare and Stevenson Associated morphology False Congenital premature fusion Inferred relationship Some 2
    Acrocephalosyndactyly Associated morphology False Congenital premature fusion 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. Associated morphology False Congenital premature fusion Inferred relationship Some 2
    Interparietal craniosynostosis (disorder) Associated morphology False Congenital premature fusion Inferred relationship Some 1
    Acrocephalopolysyndactyly Associated morphology False Congenital premature fusion Inferred relationship Some 1
    Acrocephalopolysyndactyly type III (disorder) Associated morphology False Congenital premature fusion Inferred relationship Some 1
    Acrocephalosyndactyly Associated morphology False Congenital premature fusion Inferred relationship Some 3
    Acrocephalopolysyndactyly type III (disorder) Associated morphology False Congenital premature fusion 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. Associated morphology False Congenital premature fusion Inferred relationship Some 3
    Nonsyndromic premature fusion of a single suture. Associated morphology False Congenital premature fusion Inferred relationship Some 1
    Acrocephalopolysyndactyly Associated morphology False Congenital premature fusion Inferred relationship Some 3
    Nonsyndromic premature fusion of multiple sutures. Associated morphology False Congenital premature fusion Inferred relationship Some 1
    Trigonocephaly Associated morphology False Congenital premature fusion Inferred relationship Some 2
    Jackson-Weiss syndrome Associated morphology False Congenital premature fusion Inferred relationship Some 4
    Premature restriction of foramen ovale (disorder) Associated morphology False Congenital premature fusion Inferred relationship Some 3
    Vomero-premaxillary faciosynostosis Associated morphology False Congenital premature fusion Inferred relationship Some 2
    Vomero-premaxillary faciosynostosis Associated morphology False Congenital premature fusion Inferred relationship Some 4
    Premature closure of foramen ovale Associated morphology False Congenital premature fusion Inferred relationship Some 3
    Closed ductus venosus Associated morphology False Congenital premature fusion Inferred relationship Some 3
    Complete perimaxillary faciosynostosis (disorder) Associated morphology False Congenital premature fusion Inferred relationship Some 2
    An abnormally high skull with shortness of anterior-posterior dimension. A type of craniosynostosis in which there is premature closure of the coronal suture resulting in an abnormally short anteroposterior diameter of the cranium. Associated morphology False Congenital premature fusion Inferred relationship Some 1
    Antley-Bixler syndrome Associated morphology False Congenital premature fusion Inferred relationship Some 7
    Anterior perimaxillary faciosynostosis Associated morphology False Congenital premature fusion Inferred relationship Some 1
    Bicoronal craniosynostosis Associated morphology False Congenital premature fusion Inferred relationship Some 1
    Premature restriction of foramen ovale (disorder) Associated morphology False Congenital premature fusion 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 Congenital premature fusion Inferred relationship Some 2
    Holoprosencephaly craniosynostosis syndrome (disorder) Associated morphology False Congenital premature fusion 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 Congenital premature fusion Inferred relationship Some 4
    A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Associated morphology False Congenital premature fusion Inferred relationship Some 6
    Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. Associated morphology False Congenital premature fusion Inferred relationship Some 6
    A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. Associated morphology False Congenital premature fusion Inferred relationship Some 5
    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 Congenital premature fusion Inferred relationship Some 9
    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 Congenital premature fusion Inferred relationship Some 7
    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 Congenital premature fusion Inferred relationship Some 2
    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). Associated morphology False Congenital premature fusion 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. Associated morphology False Congenital premature fusion Inferred relationship Some 12
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Associated morphology False Congenital premature fusion 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. Associated morphology False Congenital premature fusion 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. Associated morphology False Congenital premature fusion 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. Associated morphology False Congenital premature fusion 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. Associated morphology False Congenital premature fusion 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. Associated morphology False Congenital premature fusion Inferred relationship Some 3
    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 Congenital premature fusion Inferred relationship Some 7
    This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. Associated morphology False Congenital premature fusion Inferred relationship Some 6

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