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
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
Cervical spina bifida with hydrocephalus - open Occurrence True Congenital Inferred relationship Some 3
Cervical spina bifida with hydrocephalus - open Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive. Occurrence True Congenital Inferred relationship Some 2
Parastremmatic dwarfism (disorder) Occurrence True Congenital Inferred relationship Some 1
Complete transposition of great vessels Occurrence True Congenital Inferred relationship Some 2
Complete transposition of great vessels Occurrence True Congenital Inferred relationship Some 1
Popliteal pterygium syndrome Occurrence True Congenital Inferred relationship Some 1
A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. Occurrence True Congenital Inferred relationship Some 2
A rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. Occurrence True Congenital Inferred relationship Some 1
This syndrome has characteristics of congenital absence of the teeth and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families. Occurrence True Congenital Inferred relationship Some 3
This syndrome has characteristics of congenital absence of the teeth and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families. Occurrence True Congenital Inferred relationship Some 1
This syndrome has characteristics of congenital absence of the teeth and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families. Occurrence True Congenital Inferred relationship Some 2
Pontocerebellar hypoplasia type 8 (PCH8) is a novel very rare form of pontocerebellar hypoplasia characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum. Occurrence True Congenital Inferred relationship Some 1
Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. Occurrence True Congenital Inferred relationship Some 2
A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern KwaZulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short stature and brachydactyly have been reported in a few patients with MJD. Occurrence False Congenital Inferred relationship Some 1
Interatrial communication through coronary sinus orifice (disorder) Occurrence True Congenital Inferred relationship Some 2
A rare, inherited, epidermolysis bullosa simplex characterized by neonatal onset of generalized or, less frequently, localized acral blistering. Milia are rare but atrophic scarring and dystrophic nails usually occur, along with focal keratoderma (palms and soles). Severe generalized blistering may cause perinatal death or persist during the entire life. Extracutaneous involvement is common, including anemia, growth retardation, oral cavity abnormalities (blisters and erosions, and caries) and constipation. Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of fibula Occurrence True Congenital Inferred relationship Some 1
imperforation du jéjunum Occurrence False Congenital Inferred relationship Some 1
Congenital atrial septal defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Lymphedema-atrial septal defects-facial changes syndrome is characterized by congenital lymphedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. Occurrence True Congenital Inferred relationship Some 2
Lymphedema-atrial septal defects-facial changes syndrome is characterized by congenital lymphedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. Occurrence True Congenital Inferred relationship Some 1
Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with retinal dystrophy. Occurrence True Congenital Inferred relationship Some 1
Supernumerary roots Occurrence False Congenital Inferred relationship Some 1
Congenital broncho-esophageal fistula without atresia Occurrence True Congenital Inferred relationship Some 1
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. Occurrence True Congenital Inferred relationship Some 3
Melnick-Needles syndrome Occurrence True Congenital Inferred relationship Some 1
Hemicentric sacral centrum Occurrence False Congenital Inferred relationship Some 1
A rare genetic disease characterized by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991. Occurrence True Congenital Inferred relationship Some 1
Thoracolumbar spina bifida with hydrocephalus - closed (disorder) Occurrence True Congenital Inferred relationship Some 3
Naevus comedonicus Occurrence True Congenital Inferred relationship Some 1
Multiple synostosis syndrome Occurrence True Congenital Inferred relationship Some 1
Longitudinal absence of radius AND ulna Occurrence True Congenital Inferred relationship Some 1
Longitudinal absence of radius AND ulna Occurrence True Congenital Inferred relationship Some 2
Port-wine stain associated with spinal dysraphism (disorder) Occurrence True Congenital Inferred relationship Some 1
Port-wine stain associated with spinal dysraphism (disorder) Occurrence False Congenital Inferred relationship Some 2
Flynn-Aird syndrome Occurrence True Congenital Inferred relationship Some 1
Curry-Hall syndrome Occurrence True Congenital Inferred relationship Some 1
Marshall syndrome Occurrence True Congenital Inferred relationship Some 1
acrocéphalopolysyndactylie de type IV Occurrence False Congenital Inferred relationship Some 2
acrocéphalopolysyndactylie de type IV Occurrence False Congenital Inferred relationship Some 1
Vascular ring with left aortic arch to right descending aorta and right patent arterial duct (disorder) Occurrence True Congenital Inferred relationship Some 1
Immuno-osseous dysplasia Occurrence True Congenital Inferred relationship Some 1
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait. Occurrence True Congenital Inferred relationship Some 4
Hypohidrosis with neurolabyrinthitis Occurrence True Congenital Inferred relationship Some 2
Manus valga Occurrence False Congenital Inferred relationship Some 2
Spina bifida aperta of thoracic spine (disorder) Occurrence True Congenital Inferred relationship Some 2
Spina bifida aperta of thoracic spine (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence. Occurrence True Congenital Inferred relationship Some 2
A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence. Occurrence True Congenital Inferred relationship Some 1
Hypohidrotic X-linked ectodermal dysplasia Occurrence True Congenital Inferred relationship Some 1
Smith Fineman Myers syndrome Occurrence False Congenital Inferred relationship Some 1
CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal. Occurrence True Congenital Inferred relationship Some 1
Dappled diaphyseal dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Cutis gyrata syndrome of Beare and Stevenson Occurrence True Congenital Inferred relationship Some 1
Juvenile fucosidosis (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies syndrome characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. Occurrence True Congenital Inferred relationship Some 2
A rare multiple congenital anomalies syndrome characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. Occurrence True Congenital Inferred relationship Some 1
Congenital stricture of osseous meatus Occurrence True Congenital Inferred relationship Some 1
Familial multiple café-au-lait macules without neurofibromatosis Occurrence False Congenital Inferred relationship Some 1
A rare genetic skin disease belonging to the Mendelian Disorders of Cornification (MeDOC) characterized by a generally mild cutaneous desquamation in association with extracutaneous manifestations as part of a syndrome. Occurrence True Congenital Inferred relationship Some 1
Osseous syndactyly of toes second to fourth web Occurrence False Congenital Inferred relationship Some 1
Mobile kidney Occurrence True Congenital Inferred relationship Some 1
Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984. Occurrence True Congenital Inferred relationship Some 2
Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984. Occurrence True Congenital Inferred relationship Some 1
Vascular loops of inner ear Occurrence True Congenital Inferred relationship Some 1
A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966. Occurrence True Congenital Inferred relationship Some 1
Craniopagus parasiticus Occurrence True Congenital Inferred relationship Some 1
Brachyolmia - Hobaek type Occurrence False Congenital Inferred relationship Some 1
Omphalocele with obstruction Occurrence True Congenital Inferred relationship Some 3
Dicephalus tripus tribrachius Occurrence True Congenital Inferred relationship Some 1
Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. Occurrence True Congenital Inferred relationship Some 1
Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. Occurrence True Congenital Inferred relationship Some 2
Pseudohypoparathyroidism type I A Occurrence True Congenital Inferred relationship Some 1
dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire Occurrence False Congenital Inferred relationship Some 1
Greig cephalopolysyndactyly syndrome Occurrence True Congenital Inferred relationship Some 1
Bosley-Salih-Alorainy syndrome (BSAS) is characterised by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation. Occurrence True Congenital Inferred relationship Some 1
Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997. Occurrence True Congenital Inferred relationship Some 1
Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997. Occurrence True Congenital Inferred relationship Some 2
Pili annulati Occurrence True Congenital Inferred relationship Some 1
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. Occurrence True Congenital Inferred relationship Some 1
Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988. Occurrence True Congenital Inferred relationship Some 1
Seckel syndrome Occurrence True Congenital Inferred relationship Some 1
Seckel syndrome Occurrence True Congenital Inferred relationship Some 2
Craniopagus occipitalis Occurrence True Congenital Inferred relationship Some 1
A rare arthrogryposis syndrome characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993. Occurrence True Congenital Inferred relationship Some 2
A rare arthrogryposis syndrome characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993. Occurrence True Congenital Inferred relationship Some 1
Congenital vascular malformation due to inherited syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Hypertaurodontism Occurrence False Congenital Inferred relationship Some 1
Left ventricular outflow tract obstruction due to diaphragm (disorder) Occurrence False Congenital Inferred relationship Some 1
Vertical retraction syndrome Occurrence True Congenital Inferred relationship Some 1
Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. Occurrence True Congenital Inferred relationship Some 1
Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. Occurrence True Congenital Inferred relationship Some 2
Microgyria Occurrence True Congenital Inferred relationship Some 1
A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. Occurrence True Congenital Inferred relationship Some 1
Congenital micrognathism Occurrence True Congenital Inferred relationship Some 1
A rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Occurrence True Congenital Inferred relationship Some 1
Hand-foot-genital syndrome Occurrence True Congenital Inferred relationship Some 1

Start Previous Page 261 of 344 Next End

This concept is not in any reference sets

Back to Start