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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
Hand-foot-genital syndrome Occurrence True Congenital Inferred relationship Some 1
Hand-foot-genital syndrome Occurrence True Congenital Inferred relationship Some 2
Pachydermoperiostosis - familial Occurrence True Congenital Inferred relationship Some 1
Megacystis-megaureter syndrome Occurrence True Congenital Inferred relationship Some 1
Juxtaductal aortic coarctation Occurrence True Congenital Inferred relationship Some 1
Vascular ring with left aortic arch and retroesophageal right descending aorta and right arterial duct arising from aortic diverticulum and aberrant right subclavian artery (disorder) Occurrence True Congenital Inferred relationship Some 2
Vascular ring with left aortic arch and retroesophageal right descending aorta and right arterial duct arising from aortic diverticulum and aberrant right subclavian artery (disorder) Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa simplex Occurrence True Congenital Inferred relationship Some 1
hypospadias balanique Occurrence False Congenital Inferred relationship Some 1
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. Occurrence True Congenital Inferred relationship Some 3
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. Occurrence False Congenital Inferred relationship Some 4
Congenital bilateral aplasia of vas deferens Occurrence True Congenital Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly. Occurrence True Congenital Inferred relationship Some 1
Ulna metaphyseal dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare genetic disease characterized by congenital oculocutaneous hypopigmentation, visual impairment, generalized osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported. Occurrence True Congenital Inferred relationship Some 2
A rare genetic disease characterized by congenital oculocutaneous hypopigmentation, visual impairment, generalized osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported. Occurrence True Congenital Inferred relationship Some 3
A rare genetic disease characterized by congenital oculocutaneous hypopigmentation, visual impairment, generalized osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported. Occurrence True Congenital Inferred relationship Some 1
Dysplasia epiphysealis hemimelica Occurrence True Congenital Inferred relationship Some 1
Congenital coronary artery fistula to pulmonary artery Occurrence True Congenital Inferred relationship Some 1
Weill-Marchesani syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Acrocephaly Occurrence True Congenital Inferred relationship Some 1
Hemimyelocele Occurrence True Congenital Inferred relationship Some 2
Situs inversus viscerum Occurrence True Congenital Inferred relationship Some 1
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Occurrence True Congenital Inferred relationship Some 2
This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. Occurrence True Congenital Inferred relationship Some 1
Aortico-left ventricular tunnel with extracardiac aneurysm of aortic wall (disorder) Occurrence True Congenital Inferred relationship Some 1
Occipital encephalocele Occurrence True Congenital Inferred relationship Some 2
Universal mesentery Occurrence True Congenital Inferred relationship Some 1
A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. Occurrence True Congenital Inferred relationship Some 2
Dominant epidermolysis bullosa simplex, Weber-Cockayne type (disorder) Occurrence True Congenital Inferred relationship Some 1
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections Occurrence True Congenital Inferred relationship Some 1
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections Occurrence True Congenital Inferred relationship Some 2
This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. Occurrence True Congenital Inferred relationship Some 3
This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. Occurrence True Congenital Inferred relationship Some 2
11p partial monosomy syndrome Occurrence True Congenital Inferred relationship Some 2
Complete congenital absence of pulmonary trunk with complete congenital absence of left pulmonary artery (disorder) Occurrence True Congenital Inferred relationship Some 1
Dysostosis multiplex Occurrence True Congenital Inferred relationship Some 1
A rare dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. Occurrence True Congenital Inferred relationship Some 2
Spina bifida without hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 2
A rare endocrine disease characterized by lentigines with a specific peri-orifical distribution, blue nevus, myxomas, various endocrine tumors including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumors, and a wide range of other tumors. Occurrence False Congenital Inferred relationship Some 1
A rare endocrine disease characterized by lentigines with a specific peri-orifical distribution, blue nevus, myxomas, various endocrine tumors including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumors, and a wide range of other tumors. Occurrence False Congenital Inferred relationship Some 2
Congenital coronary artery fistula to right ventricle Occurrence True Congenital Inferred relationship Some 2
Congenital coronary artery fistula to right ventricle Occurrence True Congenital Inferred relationship Some 1
Astley-Kendall dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Fallopian tube and broad ligament anomalies Occurrence True Congenital Inferred relationship Some 1
Fallopian tube and broad ligament anomalies Occurrence True Congenital Inferred relationship Some 2
A rare syndrome characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. Occurrence True Congenital Inferred relationship Some 1
Laminar heterotopia Occurrence True Congenital Inferred relationship Some 1
Congenital pontocerebellar hypoplasia Occurrence True Congenital Inferred relationship Some 1
Brachyolmia - Maroteaux type (disorder) Occurrence True Congenital Inferred relationship Some 1
Osteodysplastic primordial dwarfism Occurrence True Congenital Inferred relationship Some 1
Ecchordosis physaliphora Occurrence False Congenital Inferred relationship Some 2
Chondrodysplasia punctata, Conradi-Hünermann type (disorder) Occurrence True Congenital Inferred relationship Some 1
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Occurrence True Congenital Inferred relationship Some 4
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Occurrence True Congenital Inferred relationship Some 1
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Occurrence True Congenital Inferred relationship Some 2
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Occurrence True Congenital Inferred relationship Some 3
A rare ectodermal dysplasia syndrome characterized by a variably severe clinical picture comprising dry, thin skin, onychodysplasia, trichodysplasia, and dental abnormalities (such as hypodontia, microdontia, and persistence of deciduous teeth). There have been no further descriptions in the literature since 1990. Occurrence True Congenital Inferred relationship Some 1
A very rare syndrome described in three siblings of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit. Occurrence True Congenital Inferred relationship Some 1
Congenital abnormality of thoracic aorta and pulmonary arteries Occurrence True Congenital Inferred relationship Some 1
Acephalorhachia Occurrence False Congenital Inferred relationship Some 1
Atrioventricular septal defect and common atrioventricular junction Occurrence True Congenital Inferred relationship Some 1
An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988. Occurrence True Congenital Inferred relationship Some 2
Port-wine stain in proteus syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Right superior vena cava connecting to coronary sinus and then to left sided atrium (disorder) Occurrence True Congenital Inferred relationship Some 2
Right superior vena cava connecting to coronary sinus and then to left sided atrium (disorder) Occurrence True Congenital Inferred relationship Some 1
Indeterminate atrial arrangement (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital elevation of scapula Occurrence True Congenital Inferred relationship Some 1
Hyperphosphatasemia with bone disease Occurrence True Congenital Inferred relationship Some 1
Hyperphosphatasemia with bone disease Occurrence True Congenital Inferred relationship Some 2
A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease. Occurrence True Congenital Inferred relationship Some 1
Left ventricular outflow tract abnormality Occurrence True Congenital Inferred relationship Some 1
Pulmonary venous confluence in vertical orientation (disorder) Occurrence True Congenital Inferred relationship Some 1
Johanson-Blizzard syndrome Occurrence True Congenital Inferred relationship Some 1
ménisque discoïde congénital Occurrence False Congenital Inferred relationship Some 1
Craniometaphyseal dysplasia - severe type Occurrence False Congenital Inferred relationship Some 1
Craniometaphyseal dysplasia - severe type Occurrence True Congenital Inferred relationship Some 2
Atrial septal defect with endocardial cushion defect, partial type Occurrence True Congenital Inferred relationship Some 1
Postductal aortic stenosis Occurrence True Congenital Inferred relationship Some 1
Compression of trachea and esophagus co-occurrent and due to congenital anomaly of aortic arch (disorder) Occurrence True Congenital Inferred relationship Some 2
Compression of trachea and esophagus co-occurrent and due to congenital anomaly of aortic arch (disorder) Occurrence True Congenital Inferred relationship Some 3
Compression of trachea and esophagus co-occurrent and due to congenital anomaly of aortic arch (disorder) Occurrence True Congenital Inferred relationship Some 1
Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct. Occurrence True Congenital Inferred relationship Some 1
Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly. Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of frontal bone Occurrence True Congenital Inferred relationship Some 1
A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs. Occurrence True Congenital Inferred relationship Some 3
Adult onset autosomal recessive muscular dystrophy with normal dystrophin (disorder) Occurrence False Congenital Inferred relationship Some 2
Congenital corneal keloid (disorder) Occurrence True Congenital Inferred relationship Some 1
Exstrophy of cloaca sequence Occurrence True Congenital Inferred relationship Some 1
Exstrophy of cloaca sequence Occurrence True Congenital Inferred relationship Some 2
Exstrophy of cloaca sequence Occurrence True Congenital Inferred relationship Some 3
Exstrophy of cloaca sequence Occurrence True Congenital Inferred relationship Some 4
Recessive dystrophic epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Transposition of pulmonary veins Occurrence True Congenital Inferred relationship Some 2
Transposition of pulmonary veins Occurrence True Congenital Inferred relationship Some 1
Congenital penile torsion Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of bone and joint Occurrence True Congenital Inferred relationship Some 1
A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978. Occurrence True Congenital Inferred relationship Some 1
A type of spina bifida aperta that is usually caused by a vertebral defect associated with a superficial fatty mass (lipoma or fatty tumour) that merges with the lower level of the spinal cord. Occurrence True Congenital Inferred relationship Some 2
Parkes Weber syndrome Occurrence True Congenital Inferred relationship Some 1
The patients are born with hair that falls out and is not replaced. Histologic studies show malformation of the hair follicles. Papillary lesions over most of the body and almost complete absence of hair are features. Occurrence True Congenital Inferred relationship Some 2

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