FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.6  |  FHIR Version n/a  User: [n/a]

255399007: Congenital (qualifier value)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Case insensitive SNOMED CT core
380599019 Congenita en Synonym Active Case insensitive SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Case insensitive SNOMED CT core

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
HEC syndrome Occurrence True Congenital Inferred relationship Some 1
Thoracic hemivertebra- balanced Occurrence True Congenital Inferred relationship Some 1
Non-erythrodermic lamellar ichthyosis Occurrence True Congenital Inferred relationship Some 1
Spondyloepiphyseal dysplasia tarda Occurrence True Congenital Inferred relationship Some 1
Polydactyly of toes Occurrence True Congenital Inferred relationship Some 1
Supernumerary liver lobe Occurrence True Congenital Inferred relationship Some 1
Robinson nail dystrophy-deafness syndrome Occurrence True Congenital Inferred relationship Some 1
Robinson nail dystrophy-deafness syndrome Occurrence True Congenital Inferred relationship Some 2
Steinert myotonic dystrophy syndrome Occurrence False Congenital Inferred relationship Some 1
Roselli-Gulienetti ectodermal dysplasia Occurrence True Congenital Inferred relationship Some 1
Lhermitte-Duclos disease Occurrence True Congenital Inferred relationship Some 1
Benign congenital muscular dystrophy with finger flexion contractures Occurrence True Congenital Inferred relationship Some 1
Congenital pulmonary hypoplasia due to lung space occupying lesion Occurrence True Congenital Inferred relationship Some 1
Congenital atresia of pulmonary valve Occurrence True Congenital Inferred relationship Some 1
Curry Jones syndrome Occurrence True Congenital Inferred relationship Some 1
Curry Jones syndrome Occurrence True Congenital Inferred relationship Some 3
Posterior segment vascular anomalies Occurrence False Congenital Inferred relationship Some 2
Lack of ossification of lacrimal bone Occurrence True Congenital Inferred relationship Some 2
Metaphyseal dysplasia Braun Tinschert type Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta type I Occurrence True Congenital Inferred relationship Some 1
Progressive pseudorheumatoid dysplasia Occurrence True Congenital Inferred relationship Some 1
Congenital posterolateral diaphragmatic hernia Occurrence True Congenital Inferred relationship Some 2
Dandy-Walker syndrome with spina bifida Occurrence True Congenital Inferred relationship Some 2
Patent ductus venosus Occurrence True Congenital Inferred relationship Some 1
Hereditary acroosteolysis Occurrence False Congenital Inferred relationship Some 1
Neuroectodermal melanolysosomal disease Occurrence True Congenital Inferred relationship Some 1
Congenital cerebral hernia Occurrence True Congenital Inferred relationship Some 2
Congenital stricture of osseous meatus of middle ear Occurrence True Congenital Inferred relationship Some 1
Congenital hypotrichia Occurrence True Congenital Inferred relationship Some 1
Cleft soft palate with left cleft lip Occurrence True Congenital Inferred relationship Some 1
Anonychia Occurrence True Congenital Inferred relationship Some 1
Exostosis, anetoderma, brachydactyly type E syndrome Occurrence True Congenital Inferred relationship Some 1
Microcephalic osteodysplastic dysplasia Saul Wilson type Occurrence True Congenital Inferred relationship Some 1
Microcephalic osteodysplastic dysplasia Saul Wilson type Occurrence True Congenital Inferred relationship Some 2
Congenital eventration of left crus of diaphragm Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of parietal bone Occurrence True Congenital Inferred relationship Some 1
Short rib dysplasia Occurrence True Congenital Inferred relationship Some 1
Generalised recessive non-mutilating dystrophic epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Cervical hypertrichosis and peripheral neuropathy syndrome Occurrence True Congenital Inferred relationship Some 1
Berlin syndrome Occurrence True Congenital Inferred relationship Some 1
Hydrocephaly, tall stature, joint laxity syndrome Occurrence True Congenital Inferred relationship Some 2
Hydrocephaly, tall stature, joint laxity syndrome Occurrence True Congenital Inferred relationship Some 3
Hydrocephaly, tall stature, joint laxity syndrome Occurrence True Congenital Inferred relationship Some 1
Left superior caval vein persisting to right atrium and left atrium Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of arch of thoracic vertebra Occurrence True Congenital Inferred relationship Some 1
Congenital tracheobiliary fistula Occurrence True Congenital Inferred relationship Some 1
Arteriovenous-lymphatic malformation Occurrence True Congenital Inferred relationship Some 1
Predislocation status of hip at birth Occurrence False Congenital Inferred relationship Some 1
Lethal Kniest-like syndrome Occurrence True Congenital Inferred relationship Some 1
Uterus bicornis unicollis with septate vagina Occurrence True Congenital Inferred relationship Some 1
Congenital intrauterine infection-like syndrome Occurrence True Congenital Inferred relationship Some 1
Seaver Cassidy syndrome Occurrence True Congenital Inferred relationship Some 1
Seaver Cassidy syndrome Occurrence True Congenital Inferred relationship Some 2
Phakomatosis cesioflammea Occurrence True Congenital Inferred relationship Some 1
Phakomatosis cesioflammea Occurrence True Congenital Inferred relationship Some 2
Vascular ring with left aortic arch to right descending aorta and right arterial ligament Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of rib Occurrence True Congenital Inferred relationship Some 1
Congenital phimosis Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, cataract, calcified pinna, myopathy syndrome Occurrence True Congenital Inferred relationship Some 2
Intellectual disability, cataract, calcified pinna, myopathy syndrome Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, cataract, calcified pinna, myopathy syndrome Occurrence True Congenital Inferred relationship Some 3
Microlissencephaly micromelia syndrome Occurrence True Congenital Inferred relationship Some 2
Microlissencephaly micromelia syndrome Occurrence True Congenital Inferred relationship Some 1
Right ventricle posterior to left ventricle Occurrence True Congenital Inferred relationship Some 1
Bulbus cordis and cardiac septal closure anomalies Occurrence True Congenital Inferred relationship Some 1
Deafness and oligodontia syndrome Occurrence True Congenital Inferred relationship Some 2
Deafness and oligodontia syndrome Occurrence True Congenital Inferred relationship Some 1
Acrocephalopolydactyly Occurrence True Congenital Inferred relationship Some 1
Odonto-tricho-ungual-digito-palmar syndrome Occurrence False Congenital Inferred relationship Some 1
Odonto-tricho-ungual-digito-palmar syndrome Occurrence True Congenital Inferred relationship Some 2
Thoracic hemivertebra - unbalanced Occurrence True Congenital Inferred relationship Some 1
Complete congenital absence of teeth Occurrence False Congenital Inferred relationship Some 3
Complete congenital absence of teeth Occurrence False Congenital Inferred relationship Some 2
Complete congenital absence of teeth Occurrence False Congenital Inferred relationship Some 1
Irido-trabecular dysgenesis Occurrence True Congenital Inferred relationship Some 1
Albinism co-occurrent with haematologic disorder Occurrence False Congenital Inferred relationship Some 1
Infantile fucosidosis Occurrence False Congenital Inferred relationship Some 1
Hidrotic ectodermal dysplasia Halal type Occurrence True Congenital Inferred relationship Some 1
Hidrotic ectodermal dysplasia Halal type Occurrence True Congenital Inferred relationship Some 3
Hidrotic ectodermal dysplasia Halal type Occurrence True Congenital Inferred relationship Some 2
Geroderma osteodysplastica Occurrence True Congenital Inferred relationship Some 1
Congenital abnormality of atrioventricular valve papillary muscle in atrioventricular septal defect Occurrence True Congenital Inferred relationship Some 1
Congenital alopecia Occurrence True Congenital Inferred relationship Some 1
Biliary atresia with splenic malformation syndrome Occurrence True Congenital Inferred relationship Some 1
Kniest dysplasia Occurrence True Congenital Inferred relationship Some 1
Intracardiac location of anomalous pulmonary venous connection to midline with isomeric atria Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of arch of cervical vertebra Occurrence True Congenital Inferred relationship Some 1
Oculocutaneous albinoidism Occurrence False Congenital Inferred relationship Some 1
Familial intestinal malrotation Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta type III Occurrence True Congenital Inferred relationship Some 1
Retinal degeneration, nanophthalmos, glaucoma syndrome Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, developmental delay, contracture syndrome Occurrence True Congenital Inferred relationship Some 2
Intellectual disability, developmental delay, contracture syndrome Occurrence True Congenital Inferred relationship Some 1
Bilateral secondary renal dysplasia Occurrence True Congenital Inferred relationship Some 2
Bilateral secondary renal dysplasia Occurrence False Congenital Inferred relationship Some 1
Restrictive interatrial communication with obligatory shunt Occurrence True Congenital Inferred relationship Some 1
Closed ductus venosus Occurrence True Congenital Inferred relationship Some 1
Fryns syndrome Occurrence True Congenital Inferred relationship Some 1
Oculocerebral hypopigmentation syndrome of Preus type Occurrence True Congenital Inferred relationship Some 1
Porokeratosis of Mibelli, plaque type Occurrence False Congenital Inferred relationship Some 1
Nephrosis, deafness, urinary tract, digital malformation syndrome Occurrence True Congenital Inferred relationship Some 1

Start Previous Page 18 of 329 Next End

Reference Sets

Qualifier value foundation reference set

Back to Start