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
A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals. Occurrence False Congenital Inferred relationship Some 9
An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism. Occurrence True Congenital Inferred relationship Some 1
SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation. Occurrence True Congenital Inferred relationship Some 1
Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. Occurrence True Congenital Inferred relationship Some 1
A rare syndrome with 46,XY disorder of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980. Occurrence True Congenital Inferred relationship Some 3
A rare syndrome with 46,XY disorder of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980. Occurrence False Congenital Inferred relationship Some 4
A rare syndrome with 46,XY disorder of sex development characterized by mild developmental delay and streak gonads associated with short stature, cardiac, renal, musculoskeletal, and ectodermal abnormalities (the latter including scalp defects and unusual hair whorls), and dysmorphic facial features (such as preauricular pits, short columella, and small nares). There have been no further descriptions in the literature since 1980. Occurrence False Congenital Inferred relationship Some 5
syndrome de Summitt Occurrence False Congenital Inferred relationship Some 3
syndrome de Summitt Occurrence False Congenital Inferred relationship Some 4
A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate. Occurrence True Congenital Inferred relationship Some 4
Dementia with Down syndrome Occurrence True Congenital Inferred relationship Some 3
Deletion of part of long arm of chromosome 17 (disorder) Occurrence True Congenital Inferred relationship Some 2
Deletion of part of long arm of chromosome 17 (disorder) Occurrence False Congenital Inferred relationship Some 3
Congenital cyst of orbit (disorder) Occurrence False Congenital Inferred relationship Some 1
A rare disorder of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972. Occurrence True Congenital Inferred relationship Some 2
A rare disorder of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972. Occurrence False Congenital Inferred relationship Some 3
A rare developmental defect during embryogenesis characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Mullerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut. Occurrence True Congenital Inferred relationship Some 2
A rare developmental defect during embryogenesis characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Mullerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut. Occurrence False Congenital Inferred relationship Some 3
A form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. Occurrence False Congenital Inferred relationship Some 3
A form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. Occurrence True Congenital Inferred relationship Some 4
A rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility are frequently reported in adult males. Occurrence True Congenital Inferred relationship Some 1
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behavior. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported. Occurrence True Congenital Inferred relationship Some 2
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behavior. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported. Occurrence True Congenital Inferred relationship Some 3
Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or melena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures. Occurrence True Congenital Inferred relationship Some 1
An autosomal recessive form of serine deficiency. The juvenile disease has clinical characteristics in the few reported cases of absence seizures, moderate developmental delay and behavioral disorders. Occurrence True Congenital Inferred relationship Some 1
An autosomal recessive form of serine deficiency. The infantile disease has clinical characteristics in the few reported cases of congenital microcephaly, psychomotor retardation and intractable seizures. Occurrence True Congenital Inferred relationship Some 1
A form of localized dystrophic epidermolysis bullosa characterized by trauma-induced blistering confined primarily to the hands and feet. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement. Occurrence False Congenital Inferred relationship Some 4
A form of localized dystrophic epidermolysis bullosa characterized by trauma-induced blistering confined primarily to the hands and feet. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement. Occurrence False Congenital Inferred relationship Some 5
Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy. Occurrence True Congenital Inferred relationship Some 1
X-linked absence of thyroxine-binding globulin (disorder) Occurrence True Congenital Inferred relationship Some 1
Severe steroid 21-hydroxylase deficiency Occurrence True Congenital Inferred relationship Some 1
Iodotyrosine deiodination defect Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant variant form of albumin Occurrence True Congenital Inferred relationship Some 1
Hereditary vitamin D dependency syndrome, type I Occurrence False Congenital Inferred relationship Some 1
Iodide transport defect Occurrence True Congenital Inferred relationship Some 1
Iodotyrosyl coupling defect Occurrence True Congenital Inferred relationship Some 1
Multiple endocrine neoplasia, type 1 (disorder) Occurrence False Congenital Inferred relationship Some 2
Inherited disorder of thyroid metabolism Occurrence True Congenital Inferred relationship Some 1
Familial adrenocortical hypoplasia Occurrence True Congenital Inferred relationship Some 1
X-linked reduction of thyroxine-binding globulin Occurrence True Congenital Inferred relationship Some 1
Thyroglobulin proteolysis defect Occurrence True Congenital Inferred relationship Some 1
Glucocorticoid deficiency with achalasia Occurrence True Congenital Inferred relationship Some 2
Hereditary vitamin D dependency syndrome type, II Occurrence False Congenital Inferred relationship Some 1
Thyroid hormone responsiveness defect Occurrence True Congenital Inferred relationship Some 1
Iodide oxidation defect Occurrence True Congenital Inferred relationship Some 1
X-linked excess of thyroxine-binding globulin Occurrence True Congenital Inferred relationship Some 1
Hypothyroidism due to defect in thyroid hormone synthesis Occurrence True Congenital Inferred relationship Some 1
Thyroxine transport defect Occurrence True Congenital Inferred relationship Some 1
Moderate steroid 21-hydroxylase deficiency Occurrence True Congenital Inferred relationship Some 1
diabète insipide néphrogénique héréditaire Occurrence False Congenital Inferred relationship Some 1
diabète insipide néphrogénique héréditaire Occurrence False Congenital Inferred relationship Some 2
Multiple endocrine neoplasia, type 2b Occurrence False Congenital Inferred relationship Some 2
Multiple endocrine neoplasia, type 2b Occurrence False Congenital Inferred relationship Some 3
Multiple endocrine neoplasia, type 2 Occurrence False Congenital Inferred relationship Some 2
Thyroglobulin synthesis defect Occurrence True Congenital Inferred relationship Some 1
Adrenoleukodystrophy Occurrence False Congenital Inferred relationship Some 1
Autosomal dominant excess of transthyretin Occurrence True Congenital Inferred relationship Some 1
Pendred's syndrome Occurrence True Congenital Inferred relationship Some 1
Hereditary adrenal unresponsiveness to corticotropin Occurrence True Congenital Inferred relationship Some 1
X-linked variant form of thyroxine-binding globulin Occurrence True Congenital Inferred relationship Some 1
Hereditary vitamin D dependency syndrome Occurrence False Congenital Inferred relationship Some 1
Sotos' syndrome Occurrence True Congenital Inferred relationship Some 1
Thyroxine plasma membrane transport defect Occurrence True Congenital Inferred relationship Some 1
Beckwith-Wiedemann syndrome Occurrence False Congenital Inferred relationship Some 5
Iodide peroxidase defect Occurrence True Congenital Inferred relationship Some 1
Pseudohypoaldosteronism, type 1, dominant form Occurrence False Congenital Inferred relationship Some 1
Pseudohypoaldosteronism, type 1, recessive form Occurrence False Congenital Inferred relationship Some 1
Hypogonadism with anosmia Occurrence True Congenital Inferred relationship Some 1
syndrome de Refetoff Occurrence False Congenital Inferred relationship Some 1
Hypogonadism with prune belly syndrome Occurrence True Congenital Inferred relationship Some 1
Hypogonadism with prune belly syndrome Occurrence False Congenital Inferred relationship Some 2
Hypothyroidism due to iodide organification defect Occurrence True Congenital Inferred relationship Some 1
Thyroid hormone resistance syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Generalized thyroid hormone resistance Occurrence True Congenital Inferred relationship Some 1
D-2(OH) glutaric aciduria Occurrence True Congenital Inferred relationship Some 1
D-2(OH) glutaric aciduria Occurrence True Congenital Inferred relationship Some 2
L-2(OH) glutaric aciduria Occurrence True Congenital Inferred relationship Some 1
L-2(OH) glutaric aciduria Occurrence True Congenital Inferred relationship Some 2
Neonatal adrenoleukodystrophy Occurrence True Congenital Inferred relationship Some 1
Acyl-CoA oxidase deficiency Occurrence False Congenital Inferred relationship Some 1
Pituitary thyroid hormone resistance Occurrence True Congenital Inferred relationship Some 1
Thyrotoxicosis due to pituitary thyroid hormone resistance Occurrence True Congenital Inferred relationship Some 1
Hereditary disorder of endocrine system (disorder) Occurrence False Congenital Inferred relationship Some 1
2-hydroxyglutaric aciduria Occurrence True Congenital Inferred relationship Some 1
2-hydroxyglutaric aciduria Occurrence True Congenital Inferred relationship Some 2
Familial isolated pituitary adenoma Occurrence False Congenital Inferred relationship Some 2
Hyperparathyroidism-jaw tumor syndrome (disorder) Occurrence False Congenital Inferred relationship Some 1
Pseudoprimary hyperaldosteronism (disorder) Occurrence False Congenital Inferred relationship Some 1
Hypomagnesemia with secondary hypocalcemia (disorder) Occurrence True Congenital Inferred relationship Some 1
Hypomagnesemia with secondary hypocalcemia (disorder) Occurrence True Congenital Inferred relationship Some 2
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder) Occurrence True Congenital Inferred relationship Some 1
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder) Occurrence True Congenital Inferred relationship Some 2
A rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone). It is due to mutations of the /CYP11B2/ (aldosterone synthase) gene and usually presents in infancy as a life-threatening electrolyte imbalance. Occurrence False Congenital Inferred relationship Some 1
A rare condition characterized by generalized, partial, target tissue resistance to glucocorticoids. The clinical spectrum of the condition is broad, ranging from asymptomatic to severe cases of hyperandrogenism, fatigue and/or mineralocorticoid excess. The molecular basis of glucocorticoid resistance has been ascribed to mutations in the GR gene. Occurrence True Congenital Inferred relationship Some 1
Choroideremia co-occurrent with hypopituitarism Occurrence False Congenital Inferred relationship Some 1
Choroideremia co-occurrent with hypopituitarism Occurrence False Congenital Inferred relationship Some 2
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive. Occurrence True Congenital Inferred relationship Some 1
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Presentation is of recurring episodes of hypoglycemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycemia associated with exercise is variable and is only partially responsive to diazoxide. Occurrence False Congenital Inferred relationship Some 1
A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome. Occurrence False Congenital Inferred relationship Some 1
A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome. Occurrence False Congenital Inferred relationship Some 2

Start Previous Page 239 of 344 Next End

This concept is not in any reference sets

Back to Start