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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
135131000052119 medfödd sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Pseudohermaphroditism Occurrence True Congenital Inferred relationship Some 1
Oto-onycho-peroneal syndrome Occurrence True Congenital Inferred relationship Some 2
Oto-onycho-peroneal syndrome Occurrence True Congenital Inferred relationship Some 4
Oto-onycho-peroneal syndrome Occurrence True Congenital Inferred relationship Some 3
Oto-onycho-peroneal syndrome Occurrence True Congenital Inferred relationship Some 1
Spina bifida with hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 1
Neurofibromatosis Noonan syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Neurofibromatosis Noonan syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital fibrosis of inferior rectus muscle (disorder) Occurrence True Congenital Inferred relationship Some 1
Malaligned atrial septum Occurrence True Congenital Inferred relationship Some 1
Ventricular septal defect with anterior malaligned outlet septum with overriding pulmonary valve (disorder) Occurrence True Congenital Inferred relationship Some 1
Lenticonus (disorder) Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of hyoid bone Occurrence True Congenital Inferred relationship Some 1
Short rib polydactyly syndrome Occurrence True Congenital Inferred relationship Some 1
Enlarged parietal foramina (disorder) Occurrence True Congenital Inferred relationship Some 1
Pseudovaginal perineoscrotal hypospadias Occurrence False Congenital Inferred relationship Some 1
Scalp, ear, nipple syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Scalp, ear, nipple syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Scalp, ear, nipple syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Distal radioulnar synostosis Occurrence False Congenital Inferred relationship Some 1
Cardiospondylocarpofacial syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Salla disease Occurrence True Congenital Inferred relationship Some 1
Ebstein's anomaly with atrial septal defect Occurrence True Congenital Inferred relationship Some 1
Midline cleft of lower lip Occurrence True Congenital Inferred relationship Some 1
Persistent lanugo Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Median nasal dermoid fistula Occurrence True Congenital Inferred relationship Some 1
Intrauterine amputation of lower limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Hennekam lymphangiectasia-lymphedema syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Capillary fragility abnormality Occurrence True Congenital Inferred relationship Some 1
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Syphilitic saddle nose Occurrence True Congenital Inferred relationship Some 1
Microhepatia Occurrence True Congenital Inferred relationship Some 1
Posterior lentiglobus Occurrence True Congenital Inferred relationship Some 1
Ichthyosis cheek eyebrow syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Earpit syndrome Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with separate atrioventricular orifices (disorder) Occurrence True Congenital Inferred relationship Some 1
Hooded clitoris Occurrence True Congenital Inferred relationship Some 1
Central polydactyly of fingers Occurrence True Congenital Inferred relationship Some 1
Coloboma of eyelid Occurrence True Congenital Inferred relationship Some 1
Chondrodysplasia punctata congenita Occurrence True Congenital Inferred relationship Some 1
Capillary malformation-arteriovenous malformation syndrome Occurrence True Congenital Inferred relationship Some 1
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) Occurrence True Congenital Inferred relationship Some 1
Stickler syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital tracheocele Occurrence False Congenital Inferred relationship Some 2
Fordyce spots of buccal mucosa (disorder) Occurrence False Congenital Inferred relationship Some 1
osteodysplasi Occurrence False Congenital Inferred relationship Some 1
Congenital ichthyosis with hypotrichosis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Malattachment of atrial septum with posterior aspect of septum primum to left (disorder) Occurrence True Congenital Inferred relationship Some 1
Sialic storage disease Occurrence True Congenital Inferred relationship Some 1
Manus vara Occurrence False Congenital Inferred relationship Some 2
Lamellar ichthyosis Occurrence True Congenital Inferred relationship Some 1
Hypohidrosis-diabetes insipidus syndrome Occurrence True Congenital Inferred relationship Some 2
Atrioventricular septal defect with ventricular component and interchordal shunting under superior bridging leaflet (disorder) Occurrence True Congenital Inferred relationship Some 1
familjära multipla fibrofollikulom Occurrence False Congenital Inferred relationship Some 1
Lethal hemolytic anemia and genital anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with ventricular imbalance consisting of dominant left ventricle and hypoplastic right ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
Spondylometaphyseal dysplasia Schmidt type (disorder) Occurrence True Congenital Inferred relationship Some 1
Camptodactyly Occurrence True Congenital Inferred relationship Some 1
Hemifacial hyperplasia strabismus syndrome Occurrence True Congenital Inferred relationship Some 2
Hemifacial hyperplasia strabismus syndrome Occurrence True Congenital Inferred relationship Some 1
Odonto-onycho-dermal dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Cerebrofacial dysplasia Occurrence True Congenital Inferred relationship Some 1
Congenital gastrointestinal-urinary tract fistula Occurrence True Congenital Inferred relationship Some 1
Vertical alopecia (disorder) Occurrence True Congenital Inferred relationship Some 1
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) Occurrence True Congenital Inferred relationship Some 1
Hyperplasia of pancreatic islet beta cell Occurrence True Congenital Inferred relationship Some 1
Radial polydactyly Wassel 4 Occurrence False Congenital Inferred relationship Some 1
8q22.1 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
8q22.1 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Craniosynostosis fibular aplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormality of left atrioventricular valve in double inlet ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital dislocation of knee with genu recurvatum Occurrence True Congenital Inferred relationship Some 1
Pseudohypoparathyroidism type I B Occurrence False Congenital Inferred relationship Some 1
megalencefalisyndrom med kapillär missbildning Occurrence False Congenital Inferred relationship Some 2
Familial scaphocephaly syndrome McGillivray type (disorder) Occurrence True Congenital Inferred relationship Some 1
Localised junctional epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Female hypospadias (disorder) Occurrence True Congenital Inferred relationship Some 1
Skeletal dysplasia with intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Coronary sinus defect in left atrium Occurrence True Congenital Inferred relationship Some 1
Cyprus facial neuromusculoskeletal syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Cyprus facial neuromusculoskeletal syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
hydroraki Occurrence False Congenital Inferred relationship Some 1
Ichthyosis hystrix Bäfverstedt type (disorder) Occurrence True Congenital Inferred relationship Some 1
Weissenbacher-Zweymullers syndrom Occurrence False Congenital Inferred relationship Some 2
Arteriovenous angioma Occurrence True Congenital Inferred relationship Some 1
Constriction ring syndrome of lower limb with amputation Occurrence True Congenital Inferred relationship Some 1
Multirooted tooth with convergent roots Occurrence False Congenital Inferred relationship Some 1
sena sekundära abnormiteter i centrala nervsystemet Occurrence False Congenital Inferred relationship Some 1
Pierson syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Crowding of anterior maxillary teeth (disorder) Occurrence False Congenital Inferred relationship Some 2
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Cleft palate with stapes fixation and oligodontia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
syndrom med paraplegi, brakydaktyli och konformad epifys Occurrence False Congenital Inferred relationship Some 2
syndrom med paraplegi, brakydaktyli och konformad epifys Occurrence False Congenital Inferred relationship Some 1

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