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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
Penile mid-shaft hypospadias (disorder) Occurrence True Congenital Inferred relationship Some 1
Combined malformation of central nervous system and skeletal muscle (disorder) Occurrence True Congenital Inferred relationship Some 1
syringomyélobulbie Occurrence False Congenital Inferred relationship Some 1
Elephantiasis neurofibromatosa (disorder) Occurrence True Congenital Inferred relationship Some 2
Elephantiasis neurofibromatosa (disorder) Occurrence True Congenital Inferred relationship Some 1
Triphalangeal thumb and polysyndactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Occurrence True Congenital Inferred relationship Some 2
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. Occurrence True Congenital Inferred relationship Some 1
Dominant dystrophic epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Congenital laryngomalacia Occurrence True Congenital Inferred relationship Some 1
Duplex ureter structure Occurrence False Congenital Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991. Occurrence True Congenital Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991. Occurrence True Congenital Inferred relationship Some 3
A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991. Occurrence True Congenital Inferred relationship Some 2
Craniopagus frontalis Occurrence True Congenital Inferred relationship Some 1
Sponastrime dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital stricture of anus with fistula (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare congenital cardiac malformation that is a variant of an atrioventricular septal defect (AVSD) with an interatrial communication (ostium primum defect) just above the common atrioventricular (AV) valve, no interventricular communication just below the atrioventricular valve, a common atrioventricular junction but separate right and left atrioventricular valvar orifices, and a three-leaflet, left-sided component of the common atrioventricular valve (cleft). Shunting is restricted to the atrial level because of fusion of the leaflets of the common AV valve with the crest of the ventricular septum. Occurrence True Congenital Inferred relationship Some 1
Stuve-Wiedemann dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Camptodactyly-little finger (disorder) Occurrence True Congenital Inferred relationship Some 1
dysplasie dermodentaire Occurrence False Congenital Inferred relationship Some 1
Congenital atresia and stenosis of ureter (disorder) Occurrence True Congenital Inferred relationship Some 1
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. Occurrence True Congenital Inferred relationship Some 7
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. Occurrence True Congenital Inferred relationship Some 5
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. Occurrence True Congenital Inferred relationship Some 2
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. Occurrence True Congenital Inferred relationship Some 4
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. Occurrence True Congenital Inferred relationship Some 3
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983. Occurrence True Congenital Inferred relationship Some 2
Liver hyperplasia Occurrence True Congenital Inferred relationship Some 1
Fibrous skin tumor of tuberous sclerosis Occurrence True Congenital Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, sensorineural hearing loss, developmental delay with variable degrees of intellectual disability, seizures, short stature, brachycephaly, and dysmorphic facial features (such as flat facial appearance, ptosis, short nasal tip, long philtrum, low-set and posteriorly rotated ears, and small mouth). Additional reported manifestations are skeletal abnormalities, nail dystrophy, mammary gland hypoplasia, and autism spectrum disorder. Occurrence True Congenital Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, sensorineural hearing loss, developmental delay with variable degrees of intellectual disability, seizures, short stature, brachycephaly, and dysmorphic facial features (such as flat facial appearance, ptosis, short nasal tip, long philtrum, low-set and posteriorly rotated ears, and small mouth). Additional reported manifestations are skeletal abnormalities, nail dystrophy, mammary gland hypoplasia, and autism spectrum disorder. Occurrence True Congenital Inferred relationship Some 2
Peripheral arteriovenous malformation Occurrence True Congenital Inferred relationship Some 1
Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, ophthalmic disorder characterized by the association of lens (ectopia and cataracts) and retinal (generalized tapetoretinal dystrophy and retinal detachment) anomalies, and variable myopia. Microcephaly and intellectual disability have been reported in some patients. Occurrence True Congenital Inferred relationship Some 1
A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype. Occurrence True Congenital Inferred relationship Some 3
A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype. Occurrence True Congenital Inferred relationship Some 1
A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype. Occurrence True Congenital Inferred relationship Some 2
Duplication cyst of esophagus (disorder) Occurrence True Congenital Inferred relationship Some 1
Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown. Occurrence True Congenital Inferred relationship Some 2
Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown. Occurrence True Congenital Inferred relationship Some 1
Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown. Occurrence True Congenital Inferred relationship Some 3
Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown. Occurrence True Congenital Inferred relationship Some 4
Endosteal hyperostoses Occurrence True Congenital Inferred relationship Some 1
Concrescence of teeth Occurrence False Congenital Inferred relationship Some 1
Lymphedema-cerebral arteriovenous anomaly syndrome is characterized by the variable association of a cerebrovascular malformation, foot lymphedema and primary pulmonary hypertension. It has been described in a woman and four of her children. There have been no further descriptions in the literature since 1986. Occurrence True Congenital Inferred relationship Some 1
Dextrotransposition of aorta (disorder) Occurrence True Congenital Inferred relationship Some 1
Familial hypospadias of penis (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and pontocerebellar hypoplasia with pons and cerebellum equally affected and that clinically manifests with neonatal hypotonia and impaired swallowing followed by seizures, optic atrophy and short stature from infancy onward. Movement disorders, as seen in other forms of PCH, are absent. Occurrence True Congenital Inferred relationship Some 1
Bilateral renal hypoplasia Occurrence True Congenital Inferred relationship Some 1
Pulmonary venous confluence remote from left atrium (disorder) Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of exoccipital bone Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994. Occurrence True Congenital Inferred relationship Some 2
Porokeratosis of Mibelli, superficial disseminated type Occurrence False Congenital Inferred relationship Some 1
Craniometadiaphyseal dysplasia Occurrence True Congenital Inferred relationship Some 1
Retinal cirsoid aneurysm Occurrence False Congenital Inferred relationship Some 2
dystrophie musculaire congénitale associée à une arthrogrypose congénitale multiple Occurrence True Congenital Inferred relationship Some 1
Von Hippel-Lindau syndrome Occurrence True Congenital Inferred relationship Some 1
Tricho-onychodental dysplasia Occurrence True Congenital Inferred relationship Some 1
Subaortic infundibulum Occurrence True Congenital Inferred relationship Some 1
A rare hereditary patellar dysostosis characterised by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. Occurrence True Congenital Inferred relationship Some 3
A rare hereditary patellar dysostosis characterised by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. Occurrence False Congenital Inferred relationship Some 4
Robinow-like syndrome Occurrence False Congenital Inferred relationship Some 1
Robinow-like syndrome Occurrence False Congenital Inferred relationship Some 2
Robinow-like syndrome Occurrence False Congenital Inferred relationship Some 3
Acephalothorax Occurrence False Congenital Inferred relationship Some 1
Double kidney AND/OR pelvis Occurrence False Congenital Inferred relationship Some 1
Vascular neurocutaneous syndrome Occurrence True Congenital Inferred relationship Some 1
Brachymetapodia of fourth metatarsal Occurrence False Congenital Inferred relationship Some 1
Vascular ring with left aortic arch and right arterial duct arising from retroesophageal aortic diverticulum (disorder) Occurrence True Congenital Inferred relationship Some 1
Periventricular leucomalacia Occurrence False Congenital Inferred relationship Some 1
Congenital anomalies of elbow and upper arm Occurrence True Congenital Inferred relationship Some 1
Mirror-imaged heart Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of vomer Occurrence True Congenital Inferred relationship Some 1
A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed. Occurrence True Congenital Inferred relationship Some 1
A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed. Occurrence True Congenital Inferred relationship Some 2
Congenital absence of tibia and fibula Occurrence True Congenital Inferred relationship Some 1
Congenital renal failure Occurrence True Congenital Inferred relationship Some 1
Triphalangeal thumbs with onychodystrophy Occurrence False Congenital Inferred relationship Some 1
Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis. Occurrence True Congenital Inferred relationship Some 1
Lumbar spina bifida without hydrocephalus - open Occurrence True Congenital Inferred relationship Some 2
Partial anomalous pulmonary venous connection of entire right lung (disorder) Occurrence True Congenital Inferred relationship Some 1
Lethal chondrodysplasia with fragmented bone (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of right kidney co-occurrent with congenital dysplasia of left kidney (disorder) Occurrence True Congenital Inferred relationship Some 1
Hunter-McAlpine craniosynostosis is characterized by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter). Occurrence True Congenital Inferred relationship Some 1
Muscle eye brain disease Occurrence True Congenital Inferred relationship Some 1
Café-au-lait macules with pulmonary stenosis (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed. Occurrence True Congenital Inferred relationship Some 1
Mesoaxial polydactyly of toe Occurrence True Congenital Inferred relationship Some 1
Desmiognathus Occurrence True Congenital Inferred relationship Some 1
Acroscyphodysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Multiple dislocations with dysplasia Occurrence True Congenital Inferred relationship Some 1
Congenital transposition of azygos vein Occurrence True Congenital Inferred relationship Some 1
Aicardi's syndrome Occurrence True Congenital Inferred relationship Some 3
Cake kidney Occurrence True Congenital Inferred relationship Some 1
A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. Occurrence True Congenital Inferred relationship Some 5
A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. Occurrence True Congenital Inferred relationship Some 1
A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. Occurrence True Congenital Inferred relationship Some 2
A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. Occurrence True Congenital Inferred relationship Some 4
A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. Occurrence True Congenital Inferred relationship Some 3
Congenital absence of urinary bladder and urethra (disorder) Occurrence True Congenital Inferred relationship Some 1

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