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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
Transitional atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 3
Dicentric chromosome (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare neurometabolic disease characterized by acute, reversible, and sometimes recurrent neurologic deterioration (including drowsiness, hypotonia, dysarthria, and ataxia) during a febrile illness. The condition is associated with reversible leukoencephalopathy and persistently increased urinary excretion (and sometimes cerebrospinal fluid concentration) mainly of alpha-ketoglutarate and N-acetylaspartate. Occurrence True Congenital Inferred relationship Some 2
A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures. Occurrence True Congenital Inferred relationship Some 1
A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures. Occurrence True Congenital Inferred relationship Some 2
A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures. Occurrence True Congenital Inferred relationship Some 3
A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures. Occurrence True Congenital Inferred relationship Some 4
A rare syndrome with combined immunodeficiency characterised by mild developmental delay, learning disability, failure to thrive, short stature, immunodeficiency leading to recurrent respiratory and skin infections, leucoencephalopathy, and hypohomocysteinaemia. Additional clinical features may include heart defects. Occurrence True Congenital Inferred relationship Some 2
A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed. Occurrence True Congenital Inferred relationship Some 1
A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed. Occurrence True Congenital Inferred relationship Some 2
A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed. Occurrence True Congenital Inferred relationship Some 3
A rare overgrowth/obesity syndrome characterized by mild developmental delay (notably speech delay), behavior abnormalities (including autistic or attention deficit hyperactivity disorder features, hypersociability/overfriendliness), overweight/obesity and mild dysmorphic features (including deep set eyes, broad bulbous nasal tip, large, everted ears, and thin upper lip). Other clinical features include variable and mild intellectual disability when present, broad short hands, and feet. Occurrence True Congenital Inferred relationship Some 1
A rare closed spinal dysraphism with characteristics of myelocystocele located above the conus region. Also considered as a form of saccular limited dorsal myeloschisis. Occurrence True Congenital Inferred relationship Some 1
A rare closed spinal dysraphism with characteristics of myelocystocele located above the conus region. Also considered as a form of saccular limited dorsal myeloschisis. Occurrence True Congenital Inferred relationship Some 2
A rare closed spinal dysraphism with characteristics of myelocystocele located above the conus region. Also considered as a form of saccular limited dorsal myeloschisis. Occurrence True Congenital Inferred relationship Some 3
A rare closed spinal dysraphism with characteristics of myelocystocele located above the conus region. Also considered as a form of saccular limited dorsal myeloschisis. Occurrence True Congenital Inferred relationship Some 4
Congenital dysplasia of bilateral ankle joints (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital dysplasia of bilateral ankle joints (disorder) Occurrence True Congenital Inferred relationship Some 2
Transitional atrioventricular septal defect (disorder) Occurrence True Congenital Inferred relationship Some 4
Posterior cord syndrome due to vascular malformation Occurrence True Congenital Inferred relationship Some 1
Congenital deformity of musculoskeletal system (disorder) Occurrence True Congenital Inferred relationship Some 1
Macrodactyly of toe of left foot (disorder) Occurrence True Congenital Inferred relationship Some 1
Macrodactyly of toe of right foot (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital mesocolic hernia Occurrence True Congenital Inferred relationship Some 3
Melorheostosis of right shoulder region Occurrence True Congenital Inferred relationship Some 1
Melorheostosis of right shoulder region Occurrence True Congenital Inferred relationship Some 2
Melorheostosis of left shoulder region (disorder) Occurrence True Congenital Inferred relationship Some 1
Melorheostosis of left shoulder region (disorder) Occurrence True Congenital Inferred relationship Some 2
Melorheostosis of shoulder region (disorder) Occurrence True Congenital Inferred relationship Some 1
Melorheostosis of shoulder region (disorder) Occurrence True Congenital Inferred relationship Some 2
Glucose-galactose malabsorption (disorder) Occurrence True Congenital Inferred relationship Some 3
A rare, isolated, congenital, head and neck morphological anomaly characterised by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. Although isolated in the majority of cases, newborns presenting with this morphological anomaly should be referred for further screening for 22q11.2 deletion syndrome and/or other coexisting cardiovascular, musculoskeletal, cervicofacial, respiratory, genitourinary and endocrine anomalies. Occurrence True Congenital Inferred relationship Some 1
The presence of congenital unilateral hypoplasia of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy. May present as an isolated clinical finding however when it is present in conjunction with other congenital malformations the disorder is referred to as syndrome. Occurrence True Congenital Inferred relationship Some 1
Congenital calcium pyrophosphate dihydrate crystal deposition disease Occurrence True Congenital Inferred relationship Some 1
A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, attainment of independent ambulation which is subsequently lost and uniform respiratory insufficiency during the teenage years. Intermediate COL6-RD is caused by heterozygous or biallelic pathogenic variants (PVs) in the genes coding for the alpha chains of the extracellular matrix protein collagen VI (COL6A1, COL6A2, and COL6A3). Occurrence True Congenital Inferred relationship Some 1
Benign neoplasm of undescended testis Occurrence True Congenital Inferred relationship Some 2
Carcinoma in situ of undescended testis Occurrence True Congenital Inferred relationship Some 2
Metastatic malignant neoplasm to undescended testis Occurrence True Congenital Inferred relationship Some 2
Neoplasm of uncertain behavior of undescended testis Occurrence True Congenital Inferred relationship Some 1
Neoplasm of undescended testis Occurrence True Congenital Inferred relationship Some 2
Malignant neoplasm of undescended testis Occurrence True Congenital Inferred relationship Some 2
Seminoma of undescended testis Occurrence True Congenital Inferred relationship Some 2
Malignant teratoma of undescended testis (disorder) Occurrence True Congenital Inferred relationship Some 2
Primary seminoma of undescended left testis (disorder) Occurrence True Congenital Inferred relationship Some 2
Primary seminoma of undescended testis (disorder) Occurrence True Congenital Inferred relationship Some 2
Primary seminoma of undescended bilateral testes (disorder) Occurrence True Congenital Inferred relationship Some 3
Primary seminoma of undescended bilateral testes (disorder) Occurrence True Congenital Inferred relationship Some 4
Primary seminoma of undescended right testis (disorder) Occurrence True Congenital Inferred relationship Some 2
Primary malignant neoplasm of undescended testis Occurrence True Congenital Inferred relationship Some 2
Primary malignant neoplasm of bilateral undescended testes (disorder) Occurrence True Congenital Inferred relationship Some 3
Primary malignant neoplasm of bilateral undescended testes (disorder) Occurrence True Congenital Inferred relationship Some 4
Primary malignant neoplasm of undescended right testis (disorder) Occurrence True Congenital Inferred relationship Some 2
Primary malignant neoplasm of undescended left testis (disorder) Occurrence True Congenital Inferred relationship Some 2
Primary nonseminomatous germ cell neoplasm of undescended testis (disorder) Occurrence True Congenital Inferred relationship Some 2
Primary nonseminomatous germ cell neoplasm of right undescended testis (disorder) Occurrence True Congenital Inferred relationship Some 2
Primary nonseminomatous germ cell neoplasm of left undescended testis (disorder) Occurrence True Congenital Inferred relationship Some 2
Primary nonseminomatous germ cell neoplasm of bilateral undescended testes (disorder) Occurrence True Congenital Inferred relationship Some 3
Primary nonseminomatous germ cell neoplasm of bilateral undescended testes (disorder) Occurrence True Congenital Inferred relationship Some 4
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD3 delta subunit of T-cell receptor complex mutation (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD3 epsilon subunit of T-cell receptor complex mutation (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive T- B+ severe combined immunodeficiency due to CD3Z mutation Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive T- B+ severe combined immunodeficiency due to SLP76 mutation Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant T-cell negative, B-cell negative severe combined immunodeficiency due to activated RAC2 defect Occurrence True Congenital Inferred relationship Some 1
A rare centronuclear myopathy characterised by a variable severity of muscle weakness which is typically asymmetric with a limb-girdle pattern. Severity can range from skeletal asymmetry to loss of ambulation. Other manifestations may include respiratory muscle weakness, urinary incontinence, bulbar signs (facial weakness, limitation of extra-ocular movements, ophthalmoparesis, ptosis and dysarthria), or skeletal involvement (kyphoscoliosis, scoliosis, joint hyperlaxity, joint contractures of the lower extremities, foot deformities and hand and/or facial contractures). Many female carriers remain asymptomatic. Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of esophagus Occurrence True Congenital Inferred relationship Some 1
A rare non-syndromic oesophageal malformation characterised by intrinsic narrowing of the oesophagus, caused by congenital malformation of oesophageal wall architecture present at birth. Patients manifest dysphagia and progressive vomiting. Oesophageal food impaction, failure to thrive or respiratory distress can be present. Symptoms are often attributed to colic or reflux, thus diagnosis is often difficult. Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency Occurrence True Congenital Inferred relationship Some 1
Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect, aortic coarctation, eye abnormality, sternal anomalies syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect, aortic coarctation, eye abnormality, sternal anomalies syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Severe combined immunodeficiency due to BCL11 transcription factor B deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive combined immunodeficiency with multiple intestinal atresias Occurrence False Congenital Inferred relationship Some 1
Autosomal dominant agammaglobulinaemia due to PU.1 deficiency Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterised by mild to severe intellectual disability and/or developmental delay, speech delay, behavioural problems (attention deficit-hyperactivity disorder, autism and anxiety disorders, outgoing hyper-social personality), periods of fever and cyclic vomiting. Most patients manifest additional clinical features, including gastrointestinal symptoms (poor feeding and constipation), facial dysmorphism (broad forehead, low-set posteriorly rotated ears, upturned nose and broad mouth with thin upper lip), small hands and feet often with brachydactyly, short stature, high pain threshold and/or hypersensitivity to sound, hypotonia and broad-based gait. Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive agammaglobulinemia due to solute carrier family 39 member 7 deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive agammaglobulinemia due to E47 transcription factor deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant agammaglobulinaemia due to E47 transcription factor deficiency Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive agammaglobulinemia due to p85 deficiency Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive agammaglobulinemia due to p110 delta deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive agammaglobulinaemia due to BLNK deficiency Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive agammaglobulinaemia due to lambda 5 deficiency Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive agammaglobulinemia due to immunoglobulin heavy chain mu constant region deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive agammaglobulinemia due to immunoglobulin beta deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive agammaglobulinaemia due to immunoglobulin alpha deficiency Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive combined immunodeficiency due to Wiskott Aldrich syndrome protein-interacting protein deficiency (disorder) Occurrence True Congenital Inferred relationship Some 3
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect Occurrence True Congenital Inferred relationship Some 3
A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe brain malformations associated with cerebral parenchymal underdevelopment, arthrogryposis and club feet due to mutations in KIAA1109 gene. Majority of the cases are early lethal. Milder cases may present with severe global developmental delay, intellectual disability, microcephaly, hydrocephaly, heart defects, renal problems, severe muscle hypotonia causing incapacity to stand without a support, epilepsy, syndactyly and variable dysmorphic facial features (including hypotelorism, hypertelorism, small eyes, low-set and posteriorly rotated ears, short nose, flattened nasal bridge, anteverted nares, retrognathia). Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe brain malformations associated with cerebral parenchymal underdevelopment, arthrogryposis and club feet due to mutations in KIAA1109 gene. Majority of the cases are early lethal. Milder cases may present with severe global developmental delay, intellectual disability, microcephaly, hydrocephaly, heart defects, renal problems, severe muscle hypotonia causing incapacity to stand without a support, epilepsy, syndactyly and variable dysmorphic facial features (including hypotelorism, hypertelorism, small eyes, low-set and posteriorly rotated ears, short nose, flattened nasal bridge, anteverted nares, retrognathia). Occurrence True Congenital Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe brain malformations associated with cerebral parenchymal underdevelopment, arthrogryposis and club feet due to mutations in KIAA1109 gene. Majority of the cases are early lethal. Milder cases may present with severe global developmental delay, intellectual disability, microcephaly, hydrocephaly, heart defects, renal problems, severe muscle hypotonia causing incapacity to stand without a support, epilepsy, syndactyly and variable dysmorphic facial features (including hypotelorism, hypertelorism, small eyes, low-set and posteriorly rotated ears, short nose, flattened nasal bridge, anteverted nares, retrognathia). Occurrence True Congenital Inferred relationship Some 3
A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe brain malformations associated with cerebral parenchymal underdevelopment, arthrogryposis and club feet due to mutations in KIAA1109 gene. Majority of the cases are early lethal. Milder cases may present with severe global developmental delay, intellectual disability, microcephaly, hydrocephaly, heart defects, renal problems, severe muscle hypotonia causing incapacity to stand without a support, epilepsy, syndactyly and variable dysmorphic facial features (including hypotelorism, hypertelorism, small eyes, low-set and posteriorly rotated ears, short nose, flattened nasal bridge, anteverted nares, retrognathia). Occurrence True Congenital Inferred relationship Some 4
A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients. Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual disability, global developmental delay with no speech (some patients may have limited speech), inability or difficulty to walk, microcephaly, and early-onset cataract. Additional clinical features may include hypotonia, spasticity, endocrine/metabolic diseases and immunodeficiency with lymphopenia. Occurrence True Congenital Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild or moderate intellectual disability, developmental delay, short stature and facial dysmorphism (long ears, prominent nasal tip, low columella, thin upper lip, broad mouth and prominent chin) due to KDM3B mutations. Neonatal feeding difficulties, childhood hypotonia, and behavior problems were also reported in some patients. Occurrence True Congenital Inferred relationship Some 1
Benign neoplasm of Meckel's diverticulum Occurrence True Congenital Inferred relationship Some 1
Carcinoma in situ of Meckel's diverticulum Occurrence True Congenital Inferred relationship Some 2
Primary malignant neoplasm of Meckel's diverticulum Occurrence True Congenital Inferred relationship Some 2
Metastatic malignant neoplasm to Meckel's diverticulum Occurrence True Congenital Inferred relationship Some 1
Neoplasm of uncertain behavior of Meckel's diverticulum Occurrence True Congenital Inferred relationship Some 1
Malignant neoplasm of Meckel's diverticulum (disorder) Occurrence True Congenital Inferred relationship Some 2
Meckel's diverticulitis Occurrence True Congenital Inferred relationship Some 1
Neoplasm of Meckel's diverticulum Occurrence True Congenital Inferred relationship Some 2

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