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
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Occurrence False Congenital Inferred relationship Some 1
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Occurrence False Congenital Inferred relationship Some 3
Vesicular appendix of ovary Occurrence True Congenital Inferred relationship Some 1
Ectrodactyly-ectodermal dysplasia-clefting syndrome Occurrence True Congenital Inferred relationship Some 2
A rare form of localized hypertrichosis characterized by hair growth near the laryngeal prominence during childhood. Occurrence True Congenital Inferred relationship Some 1
Pharyngeal pituitary tissue Occurrence True Congenital Inferred relationship Some 2
Palatal cyst of newborn (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital dislocation of one hip with subluxation of other Occurrence False Congenital Inferred relationship Some 1
Progressive recessive dystrophic epidermolysis bullosa (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. Occurrence True Congenital Inferred relationship Some 1
A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies. Occurrence True Congenital Inferred relationship Some 2
Inherited epidermolysis bullosa Occurrence False Congenital Inferred relationship Some 1
Cavernous lymphangioma of skin Occurrence True Congenital Inferred relationship Some 2
Ectopic bone and cartilage in lung Occurrence True Congenital Inferred relationship Some 1
Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals, in the absence of renal disease. Autosomal recessive inheritance has been suggested. Occurrence True Congenital Inferred relationship Some 1
Congenital keratoglobus Occurrence False Congenital Inferred relationship Some 1
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Occurrence True Congenital Inferred relationship Some 1
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Occurrence True Congenital Inferred relationship Some 2
Double auditory canal Occurrence True Congenital Inferred relationship Some 1
Double urinary meatus Occurrence True Congenital Inferred relationship Some 1
A rare genetic, congenital malformation syndrome characterized by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. There have been no further descriptions in the literature since 1988. Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992. Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992. Occurrence True Congenital Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992. Occurrence True Congenital Inferred relationship Some 3
Radioulnar dysostosis Occurrence True Congenital Inferred relationship Some 1
Anomalous pulmonary venous drainage to abdominal portion of inferior vena cava Occurrence True Congenital Inferred relationship Some 2
Larsen syndrome Occurrence True Congenital Inferred relationship Some 2
Larsen syndrome Occurrence True Congenital Inferred relationship Some 1
exomphale congénitale Occurrence False Congenital Inferred relationship Some 1
exomphale congénitale Occurrence False Congenital Inferred relationship Some 2
Congenital short Achilles tendon Occurrence True Congenital Inferred relationship Some 1
Metatarsus adductus Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital dislocation of hip Occurrence True Congenital Inferred relationship Some 1
Encephalocele of vertex (disorder) Occurrence True Congenital Inferred relationship Some 1
Cervical spina bifida with hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 3
Cervical spina bifida with hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 1
Congenital esophagobronchial fistula Occurrence True Congenital Inferred relationship Some 1
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia. Occurrence True Congenital Inferred relationship Some 1
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia. Occurrence True Congenital Inferred relationship Some 2
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia. Occurrence True Congenital Inferred relationship Some 3
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies. Occurrence False Congenital Inferred relationship Some 2
Nodular heterotopia Occurrence True Congenital Inferred relationship Some 1
Persistent human tail Occurrence True Congenital Inferred relationship Some 1
Sutural alopecia (disorder) Occurrence True Congenital Inferred relationship Some 1
Radial polydactyly Wassel 5 Occurrence False Congenital Inferred relationship Some 1
Interrupted aortic arch distal to left subclavian artery Occurrence True Congenital Inferred relationship Some 1
Overriding ventriculoarterial valve Occurrence False Congenital Inferred relationship Some 1
Punctate oculocutaneous albinoidism Occurrence True Congenital Inferred relationship Some 1
Double urethra Occurrence True Congenital Inferred relationship Some 1
Microdontia Occurrence False Congenital Inferred relationship Some 1
Ventricular septal defect with posterior malaligned outlet septum with overriding pulmonary valve (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital failure of fusion between maxillary and mandibular processes (disorder) Occurrence True Congenital Inferred relationship Some 1
néoplasme bénin d'un tissu mammaire ectopique chez l'homme Occurrence False Congenital Inferred relationship Some 1
A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996. Occurrence True Congenital Inferred relationship Some 1
Microcornea Occurrence True Congenital Inferred relationship Some 1
Spina bifida with hydrocephalus - open Occurrence True Congenital Inferred relationship Some 4
Common arterial trunk with pulmonary dominance co-occurrent with interrupted aortic arch (disorder) Occurrence True Congenital Inferred relationship Some 3
Absent ductus venosus with direct connection of umbilical vein to right atrium (disorder) Occurrence True Congenital Inferred relationship Some 1
Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985. Occurrence False Congenital Inferred relationship Some 3
Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985. Occurrence True Congenital Inferred relationship Some 2
Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985. Occurrence True Congenital Inferred relationship Some 1
Lumpy scalp syndrome Occurrence False Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum). Occurrence True Congenital Inferred relationship Some 4
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum). Occurrence True Congenital Inferred relationship Some 3
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum). Occurrence True Congenital Inferred relationship Some 5
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum). Occurrence True Congenital Inferred relationship Some 2
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery Occurrence True Congenital Inferred relationship Some 2
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery Occurrence True Congenital Inferred relationship Some 5
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery Occurrence True Congenital Inferred relationship Some 1
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery Occurrence True Congenital Inferred relationship Some 3
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery Occurrence True Congenital Inferred relationship Some 4
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery Occurrence True Congenital Inferred relationship Some 6
Enchondromatosis Occurrence True Congenital Inferred relationship Some 1
Malaligned outlet septum Occurrence True Congenital Inferred relationship Some 1
A rare congenital complex vascular malformation syndrome characterized by capillary malformations manifesting as wine stains and venous varicosities typically prominent along the lateral aspect of the lower extremities, associated with overgrowth of a limb (most commonly a leg, less frequently other regions of the body), involving bone and/or soft tissues. The diagnosis is usually made in presence of at least two of these three features. Lymphatic malformations are also observed, while arteriovenous fistulas are absent. Patients present recurrent painful thrombophlebitis, venous thrombosis, and sudden venous hemorrhage. Occurrence True Congenital Inferred relationship Some 1
Left ventricular outflow tract obstruction due to subpulmonary fibromuscular shelf (disorder) Occurrence False Congenital Inferred relationship Some 1
Situs inversus with levocardia Occurrence False Congenital Inferred relationship Some 1
Ulnar polydactyly of fingers Occurrence True Congenital Inferred relationship Some 1
Localized abdominal wall skin atrophy Occurrence False Congenital Inferred relationship Some 1
Incomplete ossification of femur Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with atrial and ventricular components and separate atrioventricular valves (disorder) Occurrence True Congenital Inferred relationship Some 1
Miller syndrome Occurrence True Congenital Inferred relationship Some 2
Miller syndrome Occurrence True Congenital Inferred relationship Some 1
A very rare acrofacial dysostosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988. Occurrence True Congenital Inferred relationship Some 2
A very rare acrofacial dysostosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988. Occurrence True Congenital Inferred relationship Some 1
Congenital uterovesical fistula Occurrence True Congenital Inferred relationship Some 1
Hypoplastic chondrodystrophy Occurrence True Congenital Inferred relationship Some 2
Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities. Occurrence True Congenital Inferred relationship Some 1
Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities. Occurrence True Congenital Inferred relationship Some 2
A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested. Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested. Occurrence True Congenital Inferred relationship Some 2
Interrupted right inferior vena cava (disorder) Occurrence True Congenital Inferred relationship Some 1
Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents. Occurrence True Congenital Inferred relationship Some 1
Hypoplasia of right ventricular outflow tract and trabecular area Occurrence True Congenital Inferred relationship Some 1
Cornea plana Occurrence True Congenital Inferred relationship Some 1
Hepatic vein to left sided atrium (disorder) Occurrence True Congenital Inferred relationship Some 1
Double kidney with double pelvis Occurrence True Congenital Inferred relationship Some 1
A rare orofacial clefting syndrome characterized by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints). Growth and mental development were normal. Occurrence True Congenital Inferred relationship Some 1
Spondyloenchondromatosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Malattachment of atrial septum with superior aspect of septum primum to left and posterior (disorder) Occurrence True Congenital Inferred relationship Some 1
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. Occurrence True Congenital Inferred relationship Some 1

Start Previous Page 266 of 344 Next End

This concept is not in any reference sets

Back to Start