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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
An extremely rare type of severe combined immunodeficiency (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. Occurrence True Congenital Inferred relationship Some 1
Corrected transposition of great vessels Occurrence True Congenital Inferred relationship Some 1
Hemianencephaly Occurrence True Congenital Inferred relationship Some 1
Macromelia Occurrence True Congenital Inferred relationship Some 1
Dumbbell-shaped cartilaginous centrum of thoracic vertebra Occurrence True Congenital Inferred relationship Some 1
Congenital tracheomalacia Occurrence True Congenital Inferred relationship Some 1
Ectopic cilia of eyelid Occurrence True Congenital Inferred relationship Some 1
A rare non-syndromic cerebral malformation due to abnormal neuronal migration characterized by clusters of disorganized neurons in abnormal locations such as periventricular and subcortical. The extent of the lesions ranges from isolated single to bilateral confluent nodules. Pediatric patients typically show variable degrees of developmental delay, intellectual disability, and intractable epilepsy, and concomitant cerebral and/or systemic malformations are frequent. Milder forms may present with onset of seizures in adulthood. Occurrence True Congenital Inferred relationship Some 1
Aplasia of corpus callosum Occurrence True Congenital Inferred relationship Some 1
Spina bifida of sacral region (disorder) Occurrence True Congenital Inferred relationship Some 1
Sacral spina bifida without hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 1
11p partial monosomy syndrome Occurrence True Congenital Inferred relationship Some 1
A rare genetic disorder characterized by the association of complete or partial congenital aniridia (and associated eyes abnormalities), genitourinary anomalies (ranging from sexual ambiguity to ectopic testis), variable degrees of intellectual disability and an increased risk of developing Wilms tumors. A minority of patients develop kidney failure. Other variable findings may include obesity and duplicated halluces. Occurrence True Congenital Inferred relationship Some 2
Juvenile GM1 gangliosidosis Occurrence True Congenital Inferred relationship Some 3
Adult GM1 gangliosidosis Occurrence True Congenital Inferred relationship Some 3
Congenital cutaneous lymphangiectasia Occurrence False Congenital Inferred relationship Some 2
Aganglionosis of large intestine (disorder) Occurrence True Congenital Inferred relationship Some 2
Pulmonary tuberous sclerosis (disorder) Occurrence True Congenital Inferred relationship Some 4
A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). Occurrence True Congenital Inferred relationship Some 4
Meningomyelocele of lumbosacral spine (disorder) Occurrence True Congenital Inferred relationship Some 1
Meningomyelocele of lumbosacral spine (disorder) Occurrence True Congenital Inferred relationship Some 4
Congenital absence of body of uterus (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital respiratory biliary fistula Occurrence True Congenital Inferred relationship Some 1
Congenital respiratory biliary fistula Occurrence True Congenital Inferred relationship Some 2
A rare multiple congenital anomalies syndrome characterized by short stature, sparse and depigmented scalp hair, typical facial characteristics (broad eyebrows, especially the medial portion, broad nasal ridge and tip, underdeveloped nasal alae, long philtrum, thin upper lip vermilion, and protruding ears), and limb anomalies (brachydactyly, short metacarpals and metatarsals, cone-shaped phalangeal epiphyses, dystrophic nails, and hip dysplasia). Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies syndrome characterized by short stature, sparse and depigmented scalp hair, typical facial characteristics (broad eyebrows, especially the medial portion, broad nasal ridge and tip, underdeveloped nasal alae, long philtrum, thin upper lip vermilion, and protruding ears), and limb anomalies (brachydactyly, short metacarpals and metatarsals, cone-shaped phalangeal epiphyses, dystrophic nails, and hip dysplasia). Occurrence True Congenital Inferred relationship Some 2
A rare, non-syndromic, congenital, urogenital tract malformation affecting males and characterized by penoscrotal, scrotal or perineal displacement of the urethral meatus, and commonly associated with curvation of the penis. The scrotum might appear bifid in severe cases, and the boy can also have a micropenis. Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 4
Generalized glucocorticoid resistance syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance. Occurrence True Congenital Inferred relationship Some 1
Congenital arteriovenous malformation of duodenum (disorder) Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa simplex with hypodontia Occurrence True Congenital Inferred relationship Some 2
Eisenmenger ventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare autosomal trisomy, characterized by reduced fetal movements and intrauterine growth retardation, low birth weight, and multiple congenital anomalies. The latter include, amongst others, facial dysmorphism (like hypertelorism, cleft lip/palate, micrognathia, low hairline, and small, low-set, and posteriorly rotated ears), head circumference below average, deformities of the hands (camptodactyly) and feet, marked hypertrichosis, and anomalies of the brain, heart, and lungs. Lethality appears to depend on the degree of mosaicism. Occurrence True Congenital Inferred relationship Some 1
A rare autosomal trisomy, characterized by reduced fetal movements and intrauterine growth retardation, low birth weight, and multiple congenital anomalies. The latter include, amongst others, facial dysmorphism (like hypertelorism, cleft lip/palate, micrognathia, low hairline, and small, low-set, and posteriorly rotated ears), head circumference below average, deformities of the hands (camptodactyly) and feet, marked hypertrichosis, and anomalies of the brain, heart, and lungs. Lethality appears to depend on the degree of mosaicism. Occurrence True Congenital Inferred relationship Some 2
Farber's lipogranulomatosis Occurrence True Congenital Inferred relationship Some 1
Congenital Fanconi syndrome Occurrence True Congenital Inferred relationship Some 1
Stapes fixation (stapediovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease). Occurrence True Congenital Inferred relationship Some 1
Hereditary camptodactyly Occurrence True Congenital Inferred relationship Some 1
Fabry's disease Occurrence False Congenital Inferred relationship Some 1
Melnick-Fraser syndrome Occurrence True Congenital Inferred relationship Some 5
Pulmonic stenosis and congenital nephrosis Occurrence True Congenital Inferred relationship Some 2
Senter syndrome Occurrence False Congenital Inferred relationship Some 4
A rare congenital ectodermal disorder characterised by vascularising keratitis, hyperkeratotic skin lesions and hearing loss. Occurrence False Congenital Inferred relationship Some 4
A rare congenital ectodermal disorder characterised by vascularising keratitis, hyperkeratotic skin lesions and hearing loss. Occurrence True Congenital Inferred relationship Some 5
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
MEGDEL syndrome is a rare, genetic, neurometabolic disorder characterised by neonatal hypoglycaemia, features of sepsis that are not linked to infection, development of feeding problems, failure to thrive, transient liver dysfunction, and truncal hypotonia followed by dystonia and spasticity which results in psychomotor development arrest and/or regression. Progressive sensorineural deafness, intellectual disability and absent speech are also associated. Laboratory tests demonstrate 3-methylglutaconic aciduria and temporary elevated serum lactate and transaminases. Occurrence True Congenital Inferred relationship Some 1
MEGDEL syndrome is a rare, genetic, neurometabolic disorder characterised by neonatal hypoglycaemia, features of sepsis that are not linked to infection, development of feeding problems, failure to thrive, transient liver dysfunction, and truncal hypotonia followed by dystonia and spasticity which results in psychomotor development arrest and/or regression. Progressive sensorineural deafness, intellectual disability and absent speech are also associated. Laboratory tests demonstrate 3-methylglutaconic aciduria and temporary elevated serum lactate and transaminases. Occurrence True Congenital Inferred relationship Some 2
Craniofacial deafness hand syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Craniofacial deafness hand syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Craniofacial deafness hand syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Emberger syndrome Occurrence False Congenital Inferred relationship Some 1
Myhre syndrome Occurrence True Congenital Inferred relationship Some 2
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Occurrence True Congenital Inferred relationship Some 6
X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems. Occurrence True Congenital Inferred relationship Some 2
Pseudohypoparathyroidism type I A Occurrence False Congenital Inferred relationship Some 3
Beckwith-Wiedemann syndrome Occurrence True Congenital Inferred relationship Some 1
Fibrous skin tumor of tuberous sclerosis Occurrence True Congenital Inferred relationship Some 1
Congenital absence of skin on scalp Occurrence True Congenital Inferred relationship Some 2
Barber-Say syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Barber-Say syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Barber-Say syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Barber-Say syndrome (disorder) Occurrence True Congenital Inferred relationship Some 5
Agenesis of bilateral lungs Occurrence True Congenital Inferred relationship Some 1
Agenesis of bilateral lungs Occurrence True Congenital Inferred relationship Some 2
Congenital generalized hypertrichosis (disorder) Occurrence True Congenital Inferred relationship Some 1
An X-linked clinical subtype of L1 syndrome with characteristics of mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs and mild to moderate distension of the cerebral ventricles. Occurrence True Congenital Inferred relationship Some 1
An X-linked clinical subtype of L1 syndrome with characteristics of mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs and mild to moderate distension of the cerebral ventricles. Occurrence True Congenital Inferred relationship Some 2
An X-linked clinical subtype of L1 syndrome with characteristics of mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs and mild to moderate distension of the cerebral ventricles. Occurrence True Congenital Inferred relationship Some 3
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. Occurrence True Congenital Inferred relationship Some 6
Aplasia cutis congenita of limb (disorder) Occurrence True Congenital Inferred relationship Some 2
46,XY disorder of sex development due to maternal ingestion of progestogen (disorder) Occurrence True Congenital Inferred relationship Some 1
Basal encephalocele (disorder) Occurrence True Congenital Inferred relationship Some 1
Basal encephalocele (disorder) Occurrence True Congenital Inferred relationship Some 2
46 XY disorder of sex development due to maternal ingestion of estrogen (disorder) Occurrence True Congenital Inferred relationship Some 1
46,XX disorder of sex development due to maternal Krukenberg neoplasm (disorder) Occurrence True Congenital Inferred relationship Some 1
46,XX disorder of sex development due to maternal adrenal neoplasm (disorder) Occurrence True Congenital Inferred relationship Some 1
Atresia of mitral valve with absent atrioventricular connection Occurrence True Congenital Inferred relationship Some 1
Atresia of mitral valve with absent atrioventricular connection Occurrence True Congenital Inferred relationship Some 2
Ablepharon of bilateral eyelids (disorder) Occurrence True Congenital Inferred relationship Some 1
Ablepharon of bilateral eyelids (disorder) Occurrence True Congenital Inferred relationship Some 2
46,XX disorder of sex development due to maternal androluteoma (disorder) Occurrence True Congenital Inferred relationship Some 1
46,XX disorder of sex development due to maternal arrhenoblastoma (disorder) Occurrence True Congenital Inferred relationship Some 1
Jervell and Lange-Nielsen syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital parachute malformation of right atrioventricular valve (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital parachute malformation of right atrioventricular valve (disorder) Occurrence True Congenital Inferred relationship Some 2
Constriction ring syndrome of lower limb with amputation Occurrence True Congenital Inferred relationship Some 3
Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise. Occurrence True Congenital Inferred relationship Some 2
Blue sclera of bilateral eyes Occurrence True Congenital Inferred relationship Some 1
Blue sclera of bilateral eyes Occurrence True Congenital Inferred relationship Some 2
Clinodactyly of bilateral toes (disorder) Occurrence True Congenital Inferred relationship Some 1
Clinodactyly of bilateral toes (disorder) Occurrence True Congenital Inferred relationship Some 2
Bilateral coloboma of macula Occurrence True Congenital Inferred relationship Some 1
Bilateral coloboma of macula Occurrence True Congenital Inferred relationship Some 2
Bilateral coloboma of lens Occurrence True Congenital Inferred relationship Some 1
Bilateral coloboma of lens Occurrence True Congenital Inferred relationship Some 2
Developmental anomaly of bilateral pleurae (disorder) Occurrence True Congenital Inferred relationship Some 1
Developmental anomaly of bilateral pleurae (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency non classic form Occurrence True Congenital Inferred relationship Some 1
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency classic form (disorder) Occurrence True Congenital Inferred relationship Some 1

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