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
Classical phenylketonuria with total deficiency of phenylalanine hydroxylase Occurrence True Congenital Inferred relationship Some 1
Chondrodysplasia punctata due to maternal autoimmune disease (disorder) Occurrence True Congenital Inferred relationship Some 1
Cervicothoracic spina bifida aperta Occurrence True Congenital Inferred relationship Some 1
Cervicothoracic spina bifida aperta Occurrence True Congenital Inferred relationship Some 2
Cervicothoracic spina bifida aperta Occurrence True Congenital Inferred relationship Some 3
Cervicothoracic spina bifida aperta Occurrence True Congenital Inferred relationship Some 4
Cervicothoracic spina bifida aperta Occurrence True Congenital Inferred relationship Some 5
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. Occurrence True Congenital Inferred relationship Some 1
A congenital malformation characterised by shortening of the middle phalanx of the fifth finger. Inherited as an autosomal dominant trait. Occurrence True Congenital Inferred relationship Some 1
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. Occurrence True Congenital Inferred relationship Some 2
Congenital torsion of left ovary (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital torsion of right ovary Occurrence True Congenital Inferred relationship Some 1
Congenital malformation of left calcaneus Occurrence True Congenital Inferred relationship Some 1
Congenital fenestration of basilar artery Occurrence True Congenital Inferred relationship Some 1
Congenital malformation of right calcaneus Occurrence True Congenital Inferred relationship Some 1
Congenital duplication of anterior communicating artery (disorder) Occurrence True Congenital Inferred relationship Some 1
Dyshormonogenic goitre Occurrence False Congenital Inferred relationship Some 3
Dyshormonogenetic goiter AND iodide leak Occurrence False Congenital Inferred relationship Some 3
Familial dyshormonogenetic goitre Occurrence False Congenital Inferred relationship Some 3
Hypothyroidism due to iodide trapping defect Occurrence True Congenital Inferred relationship Some 1
Monostotic fibrous dysplasia of left femur (disorder) Occurrence True Congenital Inferred relationship Some 1
Monostotic fibrous dysplasia of right femur Occurrence True Congenital Inferred relationship Some 1
Pendred's syndrome Occurrence True Congenital Inferred relationship Some 4
Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. Occurrence True Congenital Inferred relationship Some 3
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15). Occurrence True Congenital Inferred relationship Some 3
Radioulnar synostosis Occurrence False Congenital Inferred relationship Some 2
Radioulnar synostosis of bilateral upper limbs Occurrence False Congenital Inferred relationship Some 3
Radioulnar synostosis of bilateral upper limbs Occurrence False Congenital Inferred relationship Some 4
Microperforate hymen Occurrence True Congenital Inferred relationship Some 1
Cribriform hymen (disorder) Occurrence True Congenital Inferred relationship Some 1
Septate hymen Occurrence True Congenital Inferred relationship Some 1
Congenital agenesis of vagina Occurrence True Congenital Inferred relationship Some 1
Cheilognathoprosoposchisis Occurrence False Congenital Inferred relationship Some 3
Congenital macrostomia Occurrence False Congenital Inferred relationship Some 3
Cleft lip sequence Occurrence False Congenital Inferred relationship Some 2
Central cleft lip Occurrence False Congenital Inferred relationship Some 2
Cleft lip Occurrence False Congenital Inferred relationship Some 2
Bilateral congenital macrostomia Occurrence False Congenital Inferred relationship Some 3
An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. Occurrence False Congenital Inferred relationship Some 5
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of omphalocele and cleft palate. Other reported features include cleft lip, bifid uvula, bilateral talipes equinovarus, bicornuate uterus, and hydrocephalus internus. The condition is lethal in infancy. Occurrence False Congenital Inferred relationship Some 4
Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. Occurrence False Congenital Inferred relationship Some 4
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. Occurrence False Congenital Inferred relationship Some 5
Cleft lip/palate-deafness-sacral lipoma syndrome is characterized by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. Occurrence False Congenital Inferred relationship Some 6
Cleft of hard palate and cleft lip (disorder) Occurrence False Congenital Inferred relationship Some 3
Right cleft lip (disorder) Occurrence False Congenital Inferred relationship Some 2
Left cleft lip Occurrence False Congenital Inferred relationship Some 2
Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988. Occurrence False Congenital Inferred relationship Some 6
A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the gray line, associated with cleft lip and palate. Eye examination is otherwise normal. Occurrence True Congenital Inferred relationship Some 3
Complete cleft of hard palate Occurrence False Congenital Inferred relationship Some 2
Incomplete cleft palate (disorder) Occurrence False Congenital Inferred relationship Some 2
A rare congenital nose and cavum anomaly characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia; other malformations such as hypertelorbitism and midline clefts of the lip may also be associated. Occurrence False Congenital Inferred relationship Some 2
Cleft palate and bilateral cleft lip (disorder) Occurrence False Congenital Inferred relationship Some 4
Orofacial cleft (disorder) Occurrence False Congenital Inferred relationship Some 2
Pilotto syndrome Occurrence False Congenital Inferred relationship Some 3
PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. Occurrence False Congenital Inferred relationship Some 6
Submucous cleft palate Occurrence False Congenital Inferred relationship Some 2
Central cleft of soft palate (disorder) Occurrence False Congenital Inferred relationship Some 2
Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadias, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed. Occurrence False Congenital Inferred relationship Some 4
Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (including elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss. Occurrence False Congenital Inferred relationship Some 4
Complete left cleft lip (disorder) Occurrence False Congenital Inferred relationship Some 2
Complete right cleft lip (disorder) Occurrence False Congenital Inferred relationship Some 2
Incomplete right cleft lip Occurrence False Congenital Inferred relationship Some 2
Incomplete left cleft lip (disorder) Occurrence False Congenital Inferred relationship Some 2
X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported. Occurrence False Congenital Inferred relationship Some 3
Congenital macrostomia of left side of mouth (disorder) Occurrence False Congenital Inferred relationship Some 3
Congenital macrostomia of right side of mouth (disorder) Occurrence False Congenital Inferred relationship Some 3
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphthalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region. Occurrence False Congenital Inferred relationship Some 5
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. Occurrence False Congenital Inferred relationship Some 4
De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. Occurrence True Congenital Inferred relationship Some 1
De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. Occurrence True Congenital Inferred relationship Some 2
De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. Occurrence True Congenital Inferred relationship Some 3
De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. Occurrence True Congenital Inferred relationship Some 4
A very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations including dyspnoea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties). When large, they can lead to airway obstruction, asphyxia and death in the neonatal period. Occurrence True Congenital Inferred relationship Some 1
Fetal epignathus with conjoined twins (disorder) Occurrence True Congenital Inferred relationship Some 2
Fetal epignathus with conjoined twins (disorder) Occurrence True Congenital Inferred relationship Some 3
purpura thrombopénique congénital Occurrence False Congenital Inferred relationship Some 2
Congenital anorectal fistula due to low anorectal malformation Occurrence True Congenital Inferred relationship Some 1
Congenital anorectal fistula due to high anorectal malformation Occurrence True Congenital Inferred relationship Some 1
A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive. Occurrence True Congenital Inferred relationship Some 1
Congenital anorectal fistula due to low anorectal malformation Occurrence True Congenital Inferred relationship Some 3
Congenital anorectal fistula due to high anorectal malformation Occurrence True Congenital Inferred relationship Some 3
Congenital disruption of omphalomesenteric artery Occurrence True Congenital Inferred relationship Some 1
Congenital dysplasia of bone caused by drug Occurrence True Congenital Inferred relationship Some 1
Congenital hypertrophy of bilateral upper limbs (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypertrophy of bilateral upper limbs (disorder) Occurrence True Congenital Inferred relationship Some 2
Bilateral primary aphakia Occurrence True Congenital Inferred relationship Some 1
Bilateral primary aphakia Occurrence True Congenital Inferred relationship Some 2
Congenital partial absence of gastric muscle Occurrence True Congenital Inferred relationship Some 1
Congenital dysplasia of ear vestibule Occurrence True Congenital Inferred relationship Some 1
Bilateral primary congenital glaucoma Occurrence True Congenital Inferred relationship Some 1
Bilateral primary congenital glaucoma Occurrence True Congenital Inferred relationship Some 2
Bilateral congenital radial deviation of fingers Occurrence True Congenital Inferred relationship Some 1
Bilateral congenital radial deviation of fingers Occurrence True Congenital Inferred relationship Some 2
Bilateral primary congenital glaucoma Occurrence False Congenital Inferred relationship Some 3
Symbrachydactyly of bilateral hands and feet (disorder) Occurrence True Congenital Inferred relationship Some 1
Symbrachydactyly of bilateral hands and feet (disorder) Occurrence True Congenital Inferred relationship Some 2
Symbrachydactyly of bilateral hands and feet (disorder) Occurrence True Congenital Inferred relationship Some 3
Symbrachydactyly of bilateral hands and feet (disorder) Occurrence True Congenital Inferred relationship Some 4
Symbrachydactyly of bilateral hands and feet (disorder) Occurrence True Congenital Inferred relationship Some 5
Symbrachydactyly of bilateral hands and feet (disorder) Occurrence True Congenital Inferred relationship Some 6
Symbrachydactyly of bilateral hands and feet (disorder) Occurrence True Congenital Inferred relationship Some 7

Start Previous Page 309 of 344 Next End

This concept is not in any reference sets

Back to Start