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
Congenital absence of urinary bladder and urethra (disorder) Occurrence True Congenital Inferred relationship Some 1
Partial anomalous pulmonary venous connection of part of right lung (disorder) Occurrence True Congenital Inferred relationship Some 1
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. Occurrence True Congenital Inferred relationship Some 3
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. Occurrence True Congenital Inferred relationship Some 2
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. Occurrence True Congenital Inferred relationship Some 1
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder) Occurrence True Congenital Inferred relationship Some 1
Bipartite ossification of supraoccipital bone Occurrence True Congenital Inferred relationship Some 1
Prune belly syndrome Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with restrictive ventricular component (disorder) Occurrence True Congenital Inferred relationship Some 1
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown. Occurrence True Congenital Inferred relationship Some 1
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown. Occurrence True Congenital Inferred relationship Some 2
A rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants. Occurrence True Congenital Inferred relationship Some 2
A rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants. Occurrence True Congenital Inferred relationship Some 1
Common arterial trunk with obstruction of aortic arch (disorder) Occurrence True Congenital Inferred relationship Some 1
A severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum. Occurrence True Congenital Inferred relationship Some 1
Achondrogenesis Occurrence True Congenital Inferred relationship Some 1
Worth disease Occurrence True Congenital Inferred relationship Some 1
Aortico-left ventricular tunnel with intracardiac aneurysm of septal portion (disorder) Occurrence True Congenital Inferred relationship Some 1
Anodontia of primary dentition Occurrence True Congenital Inferred relationship Some 1
Polyostotic fibrous dysplasia of bone Occurrence True Congenital Inferred relationship Some 1
A severe, genetic form of pontocerebellar hypoplasia (PCH) characterized by spinal cord anterior horn cell degeneration in addition to pontocerebellar hypoplasia. Clinically, patients manifest with a severe global development deficit that is evident early on from difficulties in feeding and swallowing. Occurrence True Congenital Inferred relationship Some 1
Penoscrotal hypospadias (disorder) Occurrence True Congenital Inferred relationship Some 1
Partial anomalous pulmonary venous connection of part of left lung (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare genetic eye disease characterized by abnormal proliferation of retinal tissue resulting in the formation of retinal folds, thereby causing gliosis and, clinically, variable degrees of visual impairment. No clinical findings other than those associated with the eyes have been demonstrated. Occurrence True Congenital Inferred relationship Some 1
Ichthyose-Hypotrichose-Syndrom Occurrence False Congenital Inferred relationship Some 1
Ichthyose-Hypotrichose-Syndrom Occurrence False Congenital Inferred relationship Some 2
Idiopathic multicentric osteolysis Occurrence True Congenital Inferred relationship Some 1
Atresia and stenosis of aorta Occurrence True Congenital Inferred relationship Some 1
Ullrich congenital muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Occurrence True Congenital Inferred relationship Some 1
Nievergelt's syndrome Occurrence True Congenital 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. Occurrence True Congenital Inferred relationship Some 1
Bilateral muscular infundibula Occurrence True Congenital Inferred relationship Some 1
Aortico-left ventricular tunnel of simple type (disorder) Occurrence True Congenital Inferred relationship Some 1
Cervical hemivertebra Occurrence True Congenital Inferred relationship Some 1
A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive. Occurrence True Congenital Inferred relationship Some 2
Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive. Occurrence True Congenital Inferred relationship Some 1
Frontonasal dysplasia sequence Occurrence True Congenital Inferred relationship Some 1
A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Occurrence True Congenital Inferred relationship Some 1
A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Occurrence True Congenital Inferred relationship Some 2
Right superior vena cava connecting to coronary sinus (disorder) Occurrence True Congenital Inferred relationship Some 2
Right superior vena cava connecting to coronary sinus (disorder) Occurrence True Congenital Inferred relationship Some 1
Arteriovenous malformation of face (disorder) Occurrence True Congenital Inferred relationship Some 1
Carpenter Waziri syndrome Occurrence False Congenital Inferred relationship Some 1
Congenital portal-systemic shunt in which at least some portal blood perfuses the liver. Occurrence True Congenital Inferred relationship Some 1
Melorheostosis Occurrence True Congenital Inferred relationship Some 1
Melorheostosis Occurrence True Congenital Inferred relationship Some 2
Cutaneous lesion resulting from spinal dysraphism (disorder) Occurrence False Congenital Inferred relationship Some 1
Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaphyseal dysplasia and severe intellectual deficit. Occurrence True Congenital Inferred relationship Some 1
Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaphyseal dysplasia and severe intellectual deficit. Occurrence True Congenital Inferred relationship Some 2
Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaphyseal dysplasia and severe intellectual deficit. Occurrence True Congenital Inferred relationship Some 3
Venous remnant Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of zygomatic bone Occurrence True Congenital Inferred relationship Some 1
Microtia Occurrence True Congenital Inferred relationship Some 1
Congenital degeneration of nervous system Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta, dominant perinatal lethal Occurrence True Congenital Inferred relationship Some 1
Wolcott-Rallison dysplasia Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia with sweating defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital urethrovaginal fistula (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital transverse mandibular hypoplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. Occurrence True Congenital Inferred relationship Some 2
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. Occurrence True Congenital Inferred relationship Some 4
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. Occurrence True Congenital Inferred relationship Some 5
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. Occurrence True Congenital Inferred relationship Some 3
A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability. Occurrence True Congenital Inferred relationship Some 2
A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability. Occurrence True Congenital Inferred relationship Some 1
Sacral spina bifida without hydrocephalus - open Occurrence True Congenital Inferred relationship Some 2
Congenital eventration of right crus of diaphragm Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of fetus Occurrence False Congenital Inferred relationship Some 1
Mannosidosis, type II Occurrence True Congenital Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungual hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrimal punctum may be occasionally absent. There have been no further descriptions in the literature since 1975. Occurrence True Congenital Inferred relationship Some 1
Straddling tricuspid valve Occurrence True Congenital Inferred relationship Some 1
Agenesis of left kidney co-occurrent with congenital dysplasia of right kidney (disorder) Occurrence True Congenital Inferred relationship Some 1
Maxillary dysostosis Occurrence True Congenital Inferred relationship Some 1
Cicatricial junctional epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Café-au-lait macules with temporal dysrhythmia (disorder) Occurrence True Congenital Inferred relationship Some 1
Phocomelia Occurrence True Congenital Inferred relationship Some 1
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. Occurrence True Congenital Inferred relationship Some 2
Metaphyseal chondrodysplasia, Sedaghatian type (disorder) Occurrence True Congenital Inferred relationship Some 1
Double inlet ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
A severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death. Occurrence True Congenital Inferred relationship Some 1
Desbuquois syndrome Occurrence True Congenital Inferred relationship Some 1
Isolation of branch of aortic arch Occurrence True Congenital Inferred relationship Some 1
A rare genetic disease characterized by infantile onset of recurrent skin ulcerations, arthralgias, fever, peri-articular fistulous osteolysis, oligodontia, nail dystrophy, and keratitis. The disease takes a self-limiting course in childhood but results in severe cicatrization, chronic arthroses, pseudoacromegalic appearance of hands and feet, secondary scoliosis, and visual impairment. There have been no further descriptions in the literature since 1983. Occurrence False Congenital Inferred relationship Some 2
A rare genetic disease characterized by infantile onset of recurrent skin ulcerations, arthralgias, fever, peri-articular fistulous osteolysis, oligodontia, nail dystrophy, and keratitis. The disease takes a self-limiting course in childhood but results in severe cicatrization, chronic arthroses, pseudoacromegalic appearance of hands and feet, secondary scoliosis, and visual impairment. There have been no further descriptions in the literature since 1983. Occurrence True Congenital Inferred relationship Some 1
Salamon's syndrome Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline). Occurrence False Congenital Inferred relationship Some 3
A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline). Occurrence True Congenital Inferred relationship Some 2
A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline). Occurrence True Congenital Inferred relationship Some 1
Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. Occurrence True Congenital Inferred relationship Some 1
Right ventricular outflow tract obstruction due to septal hypertrophy (disorder) Occurrence False Congenital Inferred relationship Some 1
Partial anomalous pulmonary venous connection with anomalous veins connecting first to pulmonary venous confluence (disorder) Occurrence True Congenital Inferred relationship Some 1
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Occurrence False Congenital Inferred relationship Some 1
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Occurrence False Congenital Inferred relationship Some 2
Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical, generalized metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign. Occurrence True Congenital Inferred relationship Some 1
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare developmental defect during embryogenesis syndrome characterized by the association of microcornea, glaucoma and frontal sinus hypoplasia. Thick palmar skin and torus palatinus have also been reported. There have been no further descriptions in the literature since 1995. Occurrence True Congenital Inferred relationship Some 1
Short rib dysplasia group (with or without polydactyly) Occurrence False Congenital Inferred relationship Some 1
A rare developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip) and, relative to other family members, short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (Kallman syndrome). There have been no further descriptions in the literature since 1986. Occurrence True Congenital Inferred relationship Some 1
Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission. Occurrence True Congenital Inferred relationship Some 1

Start Previous Page 260 of 344 Next End

This concept is not in any reference sets

Back to Start