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

255399007: Congenital (qualifier value)

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
380598010 Congenital en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
380599019 Congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life false Inferred relationship Some
Congenital Is a Fetal and/or neonatal period true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported. Occurrence False Congenital Inferred relationship Some 4
Indeterminate ventricular outflow tract obstruction Occurrence True Congenital Inferred relationship Some 1
Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and ureteral abnormalities are absent. Occurrence True Congenital Inferred relationship Some 1
Tricho-oculodermovertebral syndrome Occurrence True Congenital Inferred relationship Some 1
Ear, face and neck congenital anomalies Occurrence True Congenital Inferred relationship Some 1
First and second branchial arch syndrome Occurrence True Congenital Inferred relationship Some 1
H-type congenital tracheoesophageal fistula Occurrence True Congenital Inferred relationship Some 1
A rare closed neural tube defect characterized by cystic dilatation of the central canal of the spinal cord, herniating through a posterior vertebral arch defect (spina bifida) into an expanded cerebrospinal fluid (CSF) filled dural sac (meningocele). It can be located at the caudal part of the spinal cord (terminal myelocystocele) or above conus (non-terminal myelocystocele). Occurrence True Congenital Inferred relationship Some 2
Overriding right ventriculoarterial valve Occurrence False Congenital Inferred relationship Some 1
Melnick-Fraser syndrome Occurrence True Congenital Inferred relationship Some 1
Dystrophic epidermolysis bullosa (disorder) Occurrence True Congenital Inferred relationship Some 1
Intracardiac location of anomalous pulmonary venous connection to right atrium (disorder) Occurrence True Congenital Inferred relationship Some 1
Phakomatosis caesiomarmorata Occurrence True Congenital Inferred relationship Some 1
Phakomatosis caesiomarmorata Occurrence True Congenital Inferred relationship Some 2
Potter's facies Occurrence True Congenital Inferred relationship Some 1
Congenital malformation of trachea and bronchus Occurrence True Congenital Inferred relationship Some 1
Cobb's syndrome Occurrence True Congenital Inferred relationship Some 1
Carpal-tarsal osteolysis with nephropathy (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare disorder characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene. Occurrence True Congenital Inferred relationship Some 1
Congenital hypomyelinating neuropathy Occurrence True Congenital Inferred relationship Some 1
Metachondromatosis Occurrence True Congenital Inferred relationship Some 1
Lack of ossification of clavicle Occurrence True Congenital Inferred relationship Some 1
Brachyrachia (short spine dysplasia) Occurrence False Congenital Inferred relationship Some 1
Microcephaly-deafness-intellectual disability syndrome is characterized by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant. Occurrence True Congenital Inferred relationship Some 1
Microcephaly-deafness-intellectual disability syndrome is characterized by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant. Occurrence True Congenital Inferred relationship Some 2
Upper moiety ureter of duplex kidney Occurrence True Congenital Inferred relationship Some 1
Lissencephaly syndrome, Norman-Roberts type is characterized by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation. Occurrence True Congenital Inferred relationship Some 1
A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia. Occurrence True Congenital Inferred relationship Some 3
A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia. Occurrence True Congenital Inferred relationship Some 2
A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia. Occurrence True Congenital Inferred relationship Some 1
Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. Occurrence True Congenital Inferred relationship Some 1
Vascular ring with right aortic arch and right arterial ligament with absent left pulmonary artery (disorder) Occurrence True Congenital Inferred relationship Some 1
syndrome ischio-vertébral Occurrence False Congenital Inferred relationship Some 1
Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay. Occurrence True Congenital Inferred relationship Some 1
Congenital epulis of newborn Occurrence True Congenital Inferred relationship Some 1
Short rib-polydactyly syndrome, Majewski type Occurrence False Congenital Inferred relationship Some 3
Short rib-polydactyly syndrome, Majewski type Occurrence True Congenital 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. Occurrence True Congenital 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. Occurrence True Congenital Inferred relationship Some 1
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. Occurrence True Congenital 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. Occurrence True Congenital Inferred relationship Some 4
Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three siblings and their mother. Inheritance is autosomal dominant. Occurrence True Congenital Inferred relationship Some 2
Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males. Occurrence True Congenital Inferred relationship Some 1
Congenital anteversion of femur Occurrence True Congenital Inferred relationship Some 1
Extensive aganglionosis Hirschsprung disease (disorder) Occurrence True Congenital Inferred relationship Some 2
Extensive aganglionosis Hirschsprung disease (disorder) Occurrence True Congenital Inferred relationship Some 1
Right ventricular outflow obstruction - localized Occurrence False Congenital Inferred relationship Some 1
Type III short rib polydactyly syndrome Occurrence True Congenital Inferred relationship Some 1
Dysplastic ovary Occurrence True Congenital Inferred relationship Some 1
Hereditary benign intraepithelial dyskeratosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Hereditary benign intraepithelial dyskeratosis (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital torsion of ovary Occurrence True Congenital Inferred relationship Some 1
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. Occurrence True Congenital Inferred relationship Some 1
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. Occurrence True Congenital Inferred relationship Some 2
Dysplasia with increased bone density Occurrence True Congenital Inferred relationship Some 1
Dumbbell ossification of centrum of cervical vertebra Occurrence True Congenital Inferred relationship Some 1
Inferior vena cava connecting to coronary sinus Occurrence True Congenital Inferred relationship Some 1
Metatropic dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Metaphyseal chondrodysplasia, Jansen type Occurrence True Congenital Inferred relationship Some 1
Cleft hard and soft palate with left cleft lip (disorder) Occurrence True Congenital Inferred relationship Some 1
Cleft hard and soft palate with left cleft lip (disorder) Occurrence True Congenital Inferred relationship Some 2
A rare congenital malformation characterised by a unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, ipsilateral breast and nipple anomalies, hypoplasia of the pectoral subcutaneous tissue, absence of pectoral and axillary hair, and possibly accompanied by chest wall and/or upper limb defects. Occurrence True Congenital Inferred relationship Some 1
A rare congenital malformation characterised by a unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, ipsilateral breast and nipple anomalies, hypoplasia of the pectoral subcutaneous tissue, absence of pectoral and axillary hair, and possibly accompanied by chest wall and/or upper limb defects. Occurrence True Congenital Inferred relationship Some 2
Foramen ovale valvar aneurysm Occurrence True Congenital Inferred relationship Some 1
Congenital malformation of eye, ear and neck (disorder) Occurrence True Congenital Inferred relationship Some 1
Posterior perimaxillary faciosynostosis Occurrence False Congenital Inferred relationship Some 2
Posterior perimaxillary faciosynostosis Occurrence True Congenital Inferred relationship Some 1
Congenital emphysema (disorder) Occurrence True Congenital Inferred relationship Some 2
Fissured spine Occurrence False Congenital Inferred relationship Some 2
Ectopic pancreatic tissue in stomach Occurrence True Congenital Inferred relationship Some 1
Ectopic pancreatic tissue in stomach Occurrence True Congenital Inferred relationship Some 2
Dural carotid cavernous fistula (disorder) Occurrence True Congenital Inferred relationship Some 1
Spinal arteriovenous malformation Occurrence True Congenital Inferred relationship Some 1
Persistent urogenital sinus Occurrence True Congenital Inferred relationship Some 1
A form of junctional epidermolysis bullosa characterized by onset in childhood or young adulthood of blistering that first occurs around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, and knees. Lesions heal with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries. Occurrence True Congenital Inferred relationship Some 1
Proximal penile hypospadias (disorder) Occurrence True Congenital Inferred relationship Some 1
Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. Occurrence True Congenital Inferred relationship Some 1
Familial expansile osteolysis Occurrence True Congenital Inferred relationship Some 1
Nasofrontal encephalocele Occurrence True Congenital Inferred relationship Some 2
Lamellar ichthyosis (limited type) (disorder) Occurrence True Congenital Inferred relationship Some 1
syndrome d'Okamoto Occurrence False Congenital Inferred relationship Some 2
syndrome d'Okamoto Occurrence False Congenital Inferred relationship Some 3
True congenital varicose veins Occurrence True Congenital Inferred relationship Some 1
Exaggerated cingulum of tooth Occurrence False Congenital Inferred relationship Some 1
Preauricular dimple Occurrence True Congenital Inferred relationship Some 1
Cleft palate with right cleft lip Occurrence True Congenital Inferred relationship Some 1
Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. Occurrence True Congenital Inferred relationship Some 1
A rare syndrome with 46,XY disorder of sex development characterised by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994. Occurrence True Congenital Inferred relationship Some 1
Congenital stricture of retinal artery Occurrence True Congenital Inferred relationship Some 1
Bilateral acheiria (disorder) Occurrence True Congenital Inferred relationship Some 1
à l'examen : arachnodactylie des mains Occurrence False Congenital Inferred relationship Some 1
Tricho-dento-osseous syndrome Occurrence True Congenital Inferred relationship Some 1
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). Occurrence True Congenital Inferred relationship Some 2
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). Occurrence True Congenital Inferred relationship Some 3
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). Occurrence True Congenital Inferred relationship Some 4
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). Occurrence True Congenital Inferred relationship Some 1
Curly hair, ankyloblepharon, nail dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Occurrence False Congenital Inferred relationship Some 3
syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Occurrence False Congenital Inferred relationship Some 1
syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Occurrence False Congenital Inferred relationship Some 2
Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. Occurrence True Congenital Inferred relationship Some 1

Start Previous Page 277 of 344 Next End

This concept is not in any reference sets

Back to Start