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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
The patients are born with hair that falls out and is not replaced. Histologic studies show malformation of the hair follicles. Papillary lesions over most of the body and almost complete absence of hair are features. Occurrence True Congenital Inferred relationship Some 2
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Occurrence True Congenital Inferred relationship Some 1
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Occurrence True Congenital Inferred relationship Some 2
Occipital dysplasia Occurrence True Congenital Inferred relationship Some 1
Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported. Occurrence True Congenital Inferred relationship Some 2
Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported. Occurrence True Congenital Inferred relationship Some 1
Shwachman syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital ectodermal dysplasia of face Occurrence False Congenital Inferred relationship Some 1
Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. Occurrence True Congenital Inferred relationship Some 3
Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. Occurrence True Congenital Inferred relationship Some 1
Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. Occurrence True Congenital Inferred relationship Some 2
Azygos lobe of lung Occurrence True Congenital Inferred relationship Some 1
syndrome de Summitt Occurrence False Congenital Inferred relationship Some 2
syndrome de Summitt Occurrence False Congenital Inferred relationship Some 1
Complete congenital absence of pulmonary trunk with complete congenital absence of right pulmonary artery (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait. Occurrence True Congenital Inferred relationship Some 1
Centripetalis recessive dystrophic epidermolysis bullosa (disorder) Occurrence True Congenital Inferred relationship Some 1
Genochondromatosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Preductal aortic stenosis Occurrence True Congenital Inferred relationship Some 1
Overriding aorta Occurrence True Congenital Inferred relationship Some 1
A rare form of syndromic obesity characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature. Occurrence True Congenital Inferred relationship Some 2
syndrome de déficience intellectuelle liée à l'X-agénésie du corps calleux-quadriparésie spastique Occurrence False Congenital Inferred relationship Some 1
Congenital splenorenal shunt Occurrence True Congenital Inferred relationship Some 1
Left ventricular outflow tract obstruction due to prolapse of Eustachian valve (disorder) Occurrence False Congenital Inferred relationship Some 1
Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. Occurrence True Congenital Inferred relationship Some 3
Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. Occurrence True Congenital Inferred relationship Some 2
Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. Occurrence True Congenital Inferred relationship Some 1
Pulmonary tuberous sclerosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Combined valvular-subvalvular pulmonic stenosis Occurrence True Congenital Inferred relationship Some 2
Trichorhinophalangeal dysplasia type III (disorder) Occurrence True Congenital Inferred relationship Some 1
Thoracoceloschisis Occurrence True Congenital Inferred relationship Some 3
Double inlet to ventricle of indeterminate morphology Occurrence True Congenital Inferred relationship Some 1
Congenital genu valgum Occurrence True Congenital Inferred relationship Some 1
Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features. Occurrence True Congenital Inferred relationship Some 1
A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (<= -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. Occurrence True Congenital Inferred relationship Some 1
Osteodysplastic primordial dwarfism, type 1 Occurrence True Congenital Inferred relationship Some 1
Alveolar capillary dysplasia with pulmonary venous misalignment (disorder) Occurrence True Congenital Inferred relationship Some 1
Duplex kidney with reflux in one ureter Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of metatarsal bone Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect - isolated ventricular component Occurrence True Congenital Inferred relationship Some 1
A rare systemic or rheumatologic disease characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations. Occurrence True Congenital Inferred relationship Some 2
A rare systemic or rheumatologic disease characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations. Occurrence True Congenital Inferred relationship Some 1
Arteriovenous malformation of mandible Occurrence True Congenital Inferred relationship Some 1
Chiari malformation type III Occurrence True Congenital Inferred relationship Some 1
Displaced Meckel's diverticulum Occurrence True Congenital Inferred relationship Some 1
Congenital oculocutaneous hypopigmentation Occurrence True Congenital Inferred relationship Some 1
Left ventricular outflow tract obstruction Occurrence False Congenital Inferred relationship Some 1
Sacral spina bifida with hydrocephalus - open Occurrence True Congenital Inferred relationship Some 1
Cole-Carpenter dysplasia (disorder) Occurrence False Congenital Inferred relationship Some 1
A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993. Occurrence True Congenital Inferred relationship Some 1
A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993. Occurrence True Congenital Inferred relationship Some 3
A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993. Occurrence True Congenital Inferred relationship Some 2
Craniometaphyseal dysplasia - mild type Occurrence False Congenital Inferred relationship Some 1
Craniometaphyseal dysplasia - mild type Occurrence True Congenital Inferred relationship Some 2
Peutz-Jeghers polyps of small bowel Occurrence True Congenital Inferred relationship Some 1
Congenital urethral syringocele Occurrence True Congenital Inferred relationship Some 1
Giant esophagus Occurrence True Congenital Inferred relationship Some 1
Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterised by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. Occurrence True Congenital Inferred relationship Some 1
Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterised by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. Occurrence True Congenital Inferred relationship Some 2
Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterised by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. Occurrence True Congenital Inferred relationship Some 3
Walker-Warburg congenital muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Radial polydactyly Wassel 1 Occurrence False Congenital Inferred relationship Some 1
Cryptotia (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare multisystem disorder characterised by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, dysmorphic facial features, hypermetropia, congenital heart anomalies, congenital renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition. Occurrence True Congenital Inferred relationship Some 1
Bronchial atresia with segmental pulmonary emphysema Occurrence True Congenital Inferred relationship Some 2
Bronchial atresia with segmental pulmonary emphysema Occurrence True Congenital Inferred relationship Some 1
Langer-Giedion syndrome Occurrence True Congenital Inferred relationship Some 1
Lethal retarded ossification syndromes Occurrence True Congenital Inferred relationship Some 1
Choanal atresia with coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association Occurrence False Congenital Inferred relationship Some 1
Odonto-onychial dysplasia with alopecia Occurrence True Congenital Inferred relationship Some 3
Lack of ossification of tympanic anulus Occurrence True Congenital Inferred relationship Some 1
Cardiomyopathy and renal anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Constriction ring of upper limb with acrosyndactyly and amputation Occurrence True Congenital Inferred relationship Some 1
Triphalangeal thumb and dislocation of patella syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Splenogonadal fusion Occurrence True Congenital Inferred relationship Some 1
Congenital fistula of rectum and anus Occurrence True Congenital Inferred relationship Some 1
Congenital fecal fistula Occurrence True Congenital Inferred relationship Some 1
Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex (disorder) Occurrence False Congenital Inferred relationship Some 1
Dystrophic epidermolysis bullosa inverse type (disorder) Occurrence True Congenital Inferred relationship Some 1
Saethre-Chotzen syndrome Occurrence True Congenital Inferred relationship Some 2
A rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities). Occurrence True Congenital Inferred relationship Some 1
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
A rare and severe inborn metabolic disease characterized clinically by the association of severe-to-profound neurodevelopmental impairment, severe visual impairment, ante-postnatal growth impairment, severe scoliosis and, frequently, early-onset epilepsy. Occurrence True Congenital Inferred relationship Some 1
This syndrome is characterized by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. Occurrence True Congenital Inferred relationship Some 1
A rare congenital muscular dystrophy characterised by early onset of hypotonia, delayed motor development, and variably progressive generalised muscle weakness. Predominant involvement of pelvic and neck flexor muscles has been reported, as well as early involvement of hamstrings and medial gastrocnemius visible on muscle MRI. Serum creatine kinase levels are markedly elevated (in some cases already from early childhood). Muscle biopsy shows absence of dysferlin. Occurrence True Congenital Inferred relationship Some 1
Postductal coarctation of aorta Occurrence True Congenital Inferred relationship Some 1
Hydrolethalus (HLS) is a severe fetal malformation syndrome characterised by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. Occurrence False Congenital Inferred relationship Some 1
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. Occurrence True Congenital Inferred relationship Some 1
A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life. Occurrence True Congenital Inferred relationship Some 1
Stenosis of infundibulum of right ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
X-linked intellectual disability, Stevenson type is characterized by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome. Occurrence True Congenital Inferred relationship Some 1
Schinzel-Giedion syndrome Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes (OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactyly and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976. Occurrence True Congenital Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes (OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactyly and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976. Occurrence True Congenital Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes (OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactyly and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976. Occurrence True Congenital Inferred relationship Some 3
A genetically heterogeneous autosomal recessive syndrome characterised by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. Occurrence True Congenital Inferred relationship Some 3
A genetically heterogeneous autosomal recessive syndrome characterised by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. Occurrence True Congenital Inferred relationship Some 2
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978. Occurrence True Congenital Inferred relationship Some 1
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978. Occurrence True Congenital Inferred relationship Some 2
Junctional epidermolysis bullosa mitis Occurrence True Congenital Inferred relationship Some 1
A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay. Occurrence True Congenital Inferred relationship Some 1

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