FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

57219006: Craniosynostosis syndrome (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
95171016 Craniosynostosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
95172011 Craniostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
95173018 Craniosynostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
95174012 Premature closure of cranial sutures en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
95175013 Congenital ossification of cranial sutures en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
95176014 Congenital ossification of sutures of skull en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
95177017 Craniostenosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
795817015 Craniosynostosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1231700010 CSO - Craniosynostosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1231701014 Premature cranial suture closure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1820311000195114 sindrome da craniosinostosi it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
88261000172117 craniosténose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
466731000172113 syndrome de craniosynostose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
506041000172111 craniosynostose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3381001001000110 Kraniosynostose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


83 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Craniosynostosis syndrome Is a Congenital anomaly of joint false Inferred relationship Some
Craniosynostosis syndrome Is a Congenital abnormality of skull and face bones false Inferred relationship Some
Craniosynostosis syndrome Occurrence Congenital false Inferred relationship Some
Craniosynostosis syndrome Finding site Joint structure of suture of skull true Inferred relationship Some 1
Craniosynostosis syndrome Associated morphology anomalie congénitale false Inferred relationship Some 1
Craniosynostosis syndrome Is a Congenital anomaly of bone and joint false Inferred relationship Some
Craniosynostosis syndrome Is a Cranial suture finding false Inferred relationship Some
Craniosynostosis syndrome Associated morphology anomalie congénitale false Inferred relationship Some 2
Craniosynostosis syndrome Finding site Bone structure of cranium false Inferred relationship Some 2
Craniosynostosis syndrome Is a Congenital malformation false Inferred relationship Some
Craniosynostosis syndrome Associated morphology Congenital premature fusion false Inferred relationship Some 1
Craniosynostosis syndrome Finding site Joint structure of suture of skull false Inferred relationship Some 1
Craniosynostosis syndrome Finding site Bone structure of cranium false Inferred relationship Some
Craniosynostosis syndrome Associated morphology anomalie congénitale false Inferred relationship Some 2
Craniosynostosis syndrome Finding site Joint structure of suture of skull false Inferred relationship Some 1
Craniosynostosis syndrome Associated morphology Congenital premature fusion false Inferred relationship Some 1
Craniosynostosis syndrome Occurrence Congenital false Inferred relationship Some 3
Craniosynostosis syndrome Is a Congenital anomaly of head false Inferred relationship Some
Craniosynostosis syndrome Is a Congenital anomaly of joint false Inferred relationship Some
Craniosynostosis syndrome Associated morphology Congenital premature fusion false Inferred relationship Some 3
Craniosynostosis syndrome Finding site Joint structure of suture of skull false Inferred relationship Some 3
Craniosynostosis syndrome Is a Disorder of skull (disorder) false Inferred relationship Some
Craniosynostosis syndrome Is a Lesion of joint false Inferred relationship Some
Craniosynostosis syndrome Is a Imperfect fusion of skull true Inferred relationship Some
Craniosynostosis syndrome Occurrence Congenital true Inferred relationship Some 1
Craniosynostosis syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Craniosynostosis syndrome Associated morphology Premature fusion true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Interfrontal craniofaciosynostosis Is a False Craniosynostosis syndrome Inferred relationship Some
Fronto-parietal craniofaciosynostosis Is a False Craniosynostosis syndrome Inferred relationship Some
Fronto-malar faciosynostosis Is a False Craniosynostosis syndrome Inferred relationship Some
Parieto-occipital craniosynostosis Is a True Craniosynostosis syndrome Inferred relationship Some
Interparietal craniosynostosis (disorder) Is a True Craniosynostosis syndrome Inferred relationship Some
Unicoronal craniosynostosis Is a False Craniosynostosis syndrome Inferred relationship Some
Bicoronal craniosynostosis Is a False Craniosynostosis syndrome Inferred relationship Some
Cloverleaf skull syndrome Is a False Craniosynostosis syndrome Inferred relationship Some
Schprintzen Is a False Craniosynostosis syndrome Inferred relationship Some
Crouzon disease is characterised by craniosynostosis and facial hypoplasia. Is a True Craniosynostosis syndrome Inferred relationship Some
Antley-Bixler syndrome Is a False Craniosynostosis syndrome Inferred relationship Some
Apert's syndrome Is a False Craniosynostosis syndrome Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Is a False Craniosynostosis syndrome Inferred relationship Some
Baller-Gerold syndrome Is a True Craniosynostosis syndrome Inferred relationship Some
Saethre-Chotzen syndrome Is a False Craniosynostosis syndrome Inferred relationship Some
Fibroblast growth factor receptor 3-related craniosynostosis (disorder) Is a True Craniosynostosis syndrome Inferred relationship Some
Acrocephalosyndactyly type I Is a False Craniosynostosis syndrome Inferred relationship Some
Acrocephaly Is a False Craniosynostosis syndrome Inferred relationship Some
Carpenter's syndrome Is a False Craniosynostosis syndrome Inferred relationship Some
Cutis gyrata syndrome of Beare and Stevenson Is a True Craniosynostosis syndrome Inferred relationship Some
Nonsyndromic premature fusion of multiple sutures. Is a True Craniosynostosis syndrome Inferred relationship Some
Nonsyndromic premature fusion of a single suture. Is a True Craniosynostosis syndrome Inferred relationship Some
Acrocephalosyndactyly Is a True Craniosynostosis syndrome Inferred relationship Some
Jackson-Weiss syndrome Is a False Craniosynostosis syndrome Inferred relationship Some
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. Is a False Craniosynostosis syndrome Inferred relationship Some
Holoprosencephaly craniosynostosis syndrome (disorder) Is a True Craniosynostosis syndrome Inferred relationship Some
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. Is a True Craniosynostosis syndrome Inferred relationship Some
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. Is a True Craniosynostosis syndrome Inferred relationship Some
A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. Is a True Craniosynostosis syndrome Inferred relationship Some
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. Is a False Craniosynostosis syndrome Inferred relationship Some
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. Is a True Craniosynostosis syndrome Inferred relationship Some
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). Is a True Craniosynostosis syndrome Inferred relationship Some
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. Is a True Craniosynostosis syndrome Inferred relationship Some
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Is a False Craniosynostosis syndrome Inferred relationship Some
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. Is a False Craniosynostosis syndrome Inferred relationship Some
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. Is a True Craniosynostosis syndrome Inferred relationship Some
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. Is a True Craniosynostosis syndrome Inferred relationship Some
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). Is a True Craniosynostosis syndrome Inferred relationship Some
Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. Is a True Craniosynostosis syndrome Inferred relationship Some
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. Is a True Craniosynostosis syndrome Inferred relationship Some
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. Is a True Craniosynostosis syndrome Inferred relationship Some
Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. Is a False Craniosynostosis syndrome Inferred relationship Some
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. Is a True Craniosynostosis syndrome Inferred relationship Some
Craniosynostosis fibular aplasia syndrome (disorder) Is a False Craniosynostosis syndrome Inferred relationship Some
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. Is a True Craniosynostosis syndrome Inferred relationship Some
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. Is a True Craniosynostosis syndrome Inferred relationship Some
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. Is a True Craniosynostosis syndrome Inferred relationship Some
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. Is a True Craniosynostosis syndrome Inferred relationship Some
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. Is a True Craniosynostosis syndrome Inferred relationship Some
Trigonocephaly Is a True Craniosynostosis syndrome Inferred relationship Some
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. Is a True Craniosynostosis syndrome Inferred relationship Some
Long narrow head Is a True Craniosynostosis syndrome Inferred relationship Some
A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Is a True Craniosynostosis syndrome Inferred relationship Some
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. Is a True Craniosynostosis syndrome Inferred relationship Some
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. Is a True Craniosynostosis syndrome Inferred relationship Some
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. Is a True Craniosynostosis syndrome Inferred relationship Some
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. Is a True Craniosynostosis syndrome Inferred relationship Some
Congenital synostosis of coronal suture of skull Is a True Craniosynostosis syndrome Inferred relationship Some

This concept is not in any reference sets

Back to Start