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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
X-linked pure hereditary spastic paraplegia Occurrence False Congenital Inferred relationship Some 2
X-linked pure hereditary spastic paraplegia Occurrence False Congenital Inferred relationship Some 1
A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992. Occurrence True Congenital Inferred relationship Some 2
Gaucher disease with ophthalmoplegia and cardiovascular calcification (disorder) Occurrence True Congenital Inferred relationship Some 1
Generalized congenital lipodystrophy with myopathy (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital interstitial cell of Cajal hyperplasia with neuronal intestinal dysplasia Occurrence True Congenital Inferred relationship Some 1
Congenital interstitial cell of Cajal hyperplasia with neuronal intestinal dysplasia Occurrence True Congenital Inferred relationship Some 2
A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Macrocystic lesions consist of cysts larger than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur. Occurrence True Congenital Inferred relationship Some 1
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. Occurrence True Congenital Inferred relationship Some 1
3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicanthic folds, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. Occurrence True Congenital Inferred relationship Some 1
Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. Occurrence True Congenital Inferred relationship Some 1
6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations. Occurrence True Congenital Inferred relationship Some 1
Deletion of part of short arm of chromosome 6 (disorder) Occurrence True Congenital Inferred relationship Some 1
17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities. Occurrence True Congenital Inferred relationship Some 1
A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round face, hypertelorism, upslanting palpebral fissures, and micrognathia. Reported deletions involve regions 17q21-q24. Occurrence True Congenital Inferred relationship Some 1
Deletion of part of long arm of chromosome 17 (disorder) Occurrence True Congenital Inferred relationship Some 1
17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcemia have also been reported. Occurrence True Congenital Inferred relationship Some 1
Deletion of part of short arm of chromosome 12 (disorder) Occurrence True Congenital Inferred relationship Some 1
Deletion of part of short arm of chromosome 12 (disorder) Occurrence True Congenital Inferred relationship Some 2
Deletion of part of long arm of chromosome 12 (disorder) Occurrence True Congenital Inferred relationship Some 1
Partial deletion of long arm of chromosome 15 (disorder) Occurrence True Congenital Inferred relationship Some 1
Partial deletion of long arm of chromosome 15 (disorder) Occurrence True Congenital Inferred relationship Some 2
Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (including microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported. Occurrence True Congenital Inferred relationship Some 2
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism. Occurrence True Congenital Inferred relationship Some 1
15q13.3 microdeletion Occurrence True Congenital Inferred relationship Some 2
15q24 microdeletion Occurrence True Congenital Inferred relationship Some 2
Tetrasomy 15q (disorder) Occurrence True Congenital Inferred relationship Some 2
Angelman syndrome due to maternal monosomy 15q11q13 (disorder) Occurrence True Congenital Inferred relationship Some 1
Angelman syndrome due to maternal monosomy 15q11q13 (disorder) Occurrence True Congenital Inferred relationship Some 2
Partial duplication of long arm of chromosome 15 (disorder) Occurrence True Congenital Inferred relationship Some 1
Partial duplication of long arm of chromosome 15 (disorder) Occurrence True Congenital Inferred relationship Some 2
15q13.3 microduplication syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown. Occurrence True Congenital Inferred relationship Some 2
Congenital abnormality of right atrioventricular valve papillary muscle Occurrence True Congenital Inferred relationship Some 1
Congenital fusion of right atrioventricular valve papillary muscles Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplastic right atrioventricular valve papillary muscle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital parachute malformation of left atrioventricular valve Occurrence True Congenital Inferred relationship Some 1
Congenital fusion of left atrioventricular valve papillary muscles Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplastic left atrioventricular valve papillary muscle (disorder) Occurrence True Congenital Inferred relationship Some 1
Partial deletion of long arm of chromosome 16 Occurrence True Congenital Inferred relationship Some 1
Partial deletion of long arm of chromosome 16 Occurrence True Congenital Inferred relationship Some 2
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of long arm of chromosome 16 (disorder) Occurrence True Congenital Inferred relationship Some 2
Chromosome 16p11.2 deletion syndrome Occurrence True Congenital Inferred relationship Some 2
Duplication of part of short arm of chromosome 16 (disorder) Occurrence True Congenital Inferred relationship Some 1
Duplication of part of short arm of chromosome 16 (disorder) Occurrence True Congenital Inferred relationship Some 2
Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life. Occurrence True Congenital Inferred relationship Some 2
16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. Occurrence True Congenital Inferred relationship Some 2
16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems. Occurrence True Congenital Inferred relationship Some 2
16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described. Occurrence True Congenital Inferred relationship Some 2
Duplication of part of long arm of chromosome 16 (disorder) Occurrence True Congenital Inferred relationship Some 1
Duplication of part of long arm of chromosome 16 (disorder) Occurrence True Congenital Inferred relationship Some 2
Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (including high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported. Occurrence True Congenital Inferred relationship Some 2
2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. Occurrence True Congenital Inferred relationship Some 1
Deletion of part of long arm of chromosome 2 (disorder) Occurrence True Congenital Inferred relationship Some 1
2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. Occurrence True Congenital Inferred relationship Some 1
A rare autosomal monosomy characterized by a variable phenotype with moderate to severe intellectual disability, behavioral problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features. Occurrence True Congenital Inferred relationship Some 1
2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. Occurrence True Congenital Inferred relationship Some 1
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. Occurrence True Congenital Inferred relationship Some 1
Deletion of part of short arm of chromosome 2 (disorder) Occurrence True Congenital Inferred relationship Some 1
Mutilating keratoderma Occurrence True Congenital Inferred relationship Some 5
Natal teeth (disorder) Occurrence True Congenital Inferred relationship Some 1
Tetrasomy 12p syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
A rare autosomal anomaly defined by the presence of three copies of chromosome 8 in some cells of the body, and clinically characterized by facial dysmorphism, typically deep palmar and plantar creases, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies. Occurrence True Congenital Inferred relationship Some 2
A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2). Occurrence True Congenital Inferred relationship Some 1
A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2). Occurrence True Congenital Inferred relationship Some 3
A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed. Occurrence True Congenital Inferred relationship Some 5
Congenital mixed conductive and sensorineural hearing loss Occurrence True Congenital Inferred relationship Some 1
Trisomy 13 - mitotic nondisjunction mosaicism Occurrence True Congenital Inferred relationship Some 2
Trisomy 18 - mitotic nondisjunction mosaicism Occurrence True Congenital Inferred relationship Some 2
Nonfenestrated interatrial communication within oval fossa (disorder) Occurrence True Congenital Inferred relationship Some 1
Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Dyshormonogenetic goiter AND iodide leak Occurrence True Congenital Inferred relationship Some 1
Familial dyshormonogenetic goitre Occurrence True Congenital Inferred relationship Some 1
Dyshormonogenic goitre Occurrence True Congenital Inferred relationship Some 1
X-linked oligodontia (disorder) Occurrence True Congenital Inferred relationship Some 3
Camptodactyly of finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital faecal incontinence Occurrence True Congenital Inferred relationship Some 1
A rare genetic coagulation disorder characterised by the usually incidental laboratory finding of a prolonged activated partial thromboplastin time (aPTT) but normal prothrombin time, due to a deficiency of normal prekallikrein or the presence of nonfunctional prekallikrein. Most patients remain clinically asymptomatic, although an association with cardiovascular conditions (hypertension, myocardial infarction, other coronary artery diseases, and ischaemic strokes) and venous thrombosis, as well as rare cases with increased bleeding tendency have been reported. Occurrence True Congenital Inferred relationship Some 2
A rare subtype of split cord malformation characterised by each hemicord contained in its own dural sac, typically with an intervening bony septum. Occurrence True Congenital Inferred relationship Some 1
A rare subtype of split cord malformation characterised by each hemicord contained in its own dural sac, typically with an intervening bony septum. Occurrence True Congenital Inferred relationship Some 2
A rare subtype of split cord malformation characterised by each hemicord contained in its own dural sac, typically with an intervening bony septum. Occurrence True Congenital Inferred relationship Some 3
Ehlers-Danlos syndrome, hydroxylysine-deficient Occurrence True Congenital Inferred relationship Some 4
A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype. Occurrence True Congenital Inferred relationship Some 4
An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity. Occurrence True Congenital Inferred relationship Some 1
An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity. Occurrence True Congenital Inferred relationship Some 2
An isolated form of congenital aplasia of the uterus and two thirds of the vagina occurring in otherwise phenotypically normal females. Most often diagnosed in adolescence as the first symptom is most commonly a primary amenorrhoea in young women presenting with otherwise normal development of secondary sexual characteristics and normal external genitalia. Patients lack the uterus and the upper two thirds of the vagina. The exact aetiology of MRKH syndrome remains largely unknown, the disease was thought to be purely sporadic but in familial cases it seems to be inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity. Occurrence True Congenital Inferred relationship Some 3
A rare genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients. Occurrence True Congenital Inferred relationship Some 1
A rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance. Occurrence True Congenital Inferred relationship Some 1
Congenital instability of bilateral hip joints (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital instability of bilateral hip joints (disorder) Occurrence True Congenital Inferred relationship Some 2
A rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly. Occurrence True Congenital Inferred relationship Some 1
A rare glycolysis disorder characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle. Occurrence True Congenital Inferred relationship Some 1
Fibrous skin tumor of tuberous sclerosis Occurrence True Congenital Inferred relationship Some 6
Hydrocephalus with anomaly of aqueduct of Sylvius Occurrence True Congenital Inferred relationship Some 3
A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech, and behavioral problems. Occurrence True Congenital Inferred relationship Some 1
A rare, fatal multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including dolichocephaly/scaphocephaly, high frontal hairline, laterally overlapping upper eyelids, hypertelorism, prominent eyelashes, deep-set eyes, macrocornea, nystagmus, dysplastic ears, abnormal auricles, prominent nasal bridge, dental dysplasia), visual impairment, deafness, seizures, generalized skeletal dysplasia, high fingerprint ridge count, cryptorchidism, hypospadias, spasticity and severe intellectual disability. An increased chromosome breakage and a fatal lymphoid malignancy have been reported. There has been no further description in the literature since 1974. Occurrence True Congenital Inferred relationship Some 1
Congenital infection caused by Lymphocytic choriomeningitis virus Occurrence True Congenital Inferred relationship Some 2
A form of peeling skin syndrome characterized by a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial non-inflammatory peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy. Occurrence True Congenital Inferred relationship Some 3
A group of rare autosomal recessive forms of ichthyosis clinically characterized by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution for generalized PSS type A (noninflammatory) or B (inflammatory). Occurrence True Congenital Inferred relationship Some 1
Acral peeling skin syndrome Occurrence True Congenital Inferred relationship Some 1

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