FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.7  |  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
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
Infantile cortical hyperostosis Occurrence True Congenital Inferred relationship Some 1
Infantile cortical hyperostosis Occurrence True Congenital Inferred relationship Some 2
Langer mesomelic dysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Spina bifida with hydrocephalus of late onset Occurrence True Congenital Inferred relationship Some 3
Spina bifida with hydrocephalus of late onset Occurrence True Congenital Inferred relationship Some 1
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Spina bifida without hydrocephalus Occurrence True Congenital Inferred relationship Some 2
fibrös dysplasi Occurrence False Congenital Inferred relationship Some 1
Deafness with cataract and skeletal anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Deafness with cataract and skeletal anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Left ventricular outflow tract obstruction due to aneurysm of membranous septum (disorder) Occurrence False Congenital Inferred relationship Some 1
Atrioventricular septal defect with ventricular component under inferior bridging leaflet with chords to crest ventricular septum (disorder) Occurrence True Congenital Inferred relationship Some 1
X-linked dominant chondrodysplasia Chassaing Lacombe type (disorder) Occurrence True Congenital Inferred relationship Some 1
Preaxial polydactyly of toe (disorder) Occurrence True Congenital Inferred relationship Some 1
brakymetapodi Occurrence False Congenital Inferred relationship Some 1
brakymetapodi Occurrence False Congenital Inferred relationship Some 2
Short stature Brussels type (disorder) Occurrence True Congenital Inferred relationship Some 2
Short stature Brussels type (disorder) Occurrence True Congenital Inferred relationship Some 1
Eiken syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Eiken syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Spondylodysplasia, Torrance type (disorder) Occurrence True Congenital Inferred relationship Some 1
Cystic testicular dysplasia Occurrence True Congenital Inferred relationship Some 1
foster med avsaknad av kranium Occurrence False Congenital Inferred relationship Some 1
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Leptocephaly Occurrence True Congenital Inferred relationship Some 1
Congenital coronary arteriovenous fistula Occurrence True Congenital Inferred relationship Some 1
Persistent dorsal mesentery Occurrence True Congenital Inferred relationship Some 1
Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Ectodermal dysplasia with tooth-nail-sweating defect (disorder) Occurrence True Congenital Inferred relationship Some 1
Color changes during tooth formation Occurrence False Congenital Inferred relationship Some 1
Anomalous pulmonary venous drainage Occurrence True Congenital Inferred relationship Some 1
Nasal encephalocele Occurrence False Congenital Inferred relationship Some 3
Left ventricular outflow tract obstruction due to prolapsed arterial valve (disorder) Occurrence False Congenital Inferred relationship Some 1
Geographic retinal dysplasia Occurrence True Congenital Inferred relationship Some 1
Microcephalus with albinism and digital anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Microcephalus with albinism and digital anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Microcephalus with albinism and digital anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
hyperplastisk kondrodystrofi Occurrence False Congenital Inferred relationship Some 2
Oculogastrointestinal muscular dystrophy (disorder) Occurrence True Congenital Inferred relationship Some 1
Heart-hand syndrome type 3 (disorder) Occurrence True Congenital Inferred relationship Some 3
Heart-hand syndrome type 3 (disorder) Occurrence True Congenital Inferred relationship Some 1
Heart-hand syndrome type 3 (disorder) Occurrence True Congenital Inferred relationship Some 2
Cervical hemivertebra- balanced Occurrence True Congenital Inferred relationship Some 1
Disseminated superficial actinic porokeratosis Occurrence True Congenital Inferred relationship Some 1
Spondyloenchondromatosis with basal ganglia calcification (disorder) Occurrence False Congenital Inferred relationship Some 1
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Colloid cyst of third ventricle Occurrence False Congenital Inferred relationship Some 1
Dyskeratosis congenita Occurrence True Congenital Inferred relationship Some 1
fraktursyndrom med vinklad tibia, radiell anomali och osteopeni Occurrence False Congenital Inferred relationship Some 1
Derencephalus Occurrence True Congenital Inferred relationship Some 1
Bruck syndrome Occurrence False Congenital Inferred relationship Some 1
Reifensteins syndrom Occurrence False Congenital Inferred relationship Some 2
Congenital arteriovenous fistula haemorrhage Occurrence True Congenital Inferred relationship Some 1
Grant syndrome Occurrence True Congenital Inferred relationship Some 1
Oculopalatocerebral syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Oculopalatocerebral syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Nemaline myopathy, early onset type Occurrence True Congenital Inferred relationship Some 1
Nasal glial heterotopia Occurrence False Congenital Inferred relationship Some 2
Nasal glial heterotopia Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of epiglottis Occurrence True Congenital Inferred relationship Some 1
Congenital contracted pelvis Occurrence True Congenital Inferred relationship Some 1
Subdiaphragmatic total anomalous pulmonary venous return Occurrence True Congenital Inferred relationship Some 1
Congenital pharyngeal polyp Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta Occurrence True Congenital Inferred relationship Some 1
Craniosynostosis Boston type (disorder) Occurrence True Congenital Inferred relationship Some 2
Membranous ventricular septum defect Occurrence True Congenital Inferred relationship Some 1
Congenital volvulus Occurrence True Congenital Inferred relationship Some 1
Double outlet left atrium Occurrence True Congenital Inferred relationship Some 2
Autosomal recessive aplasia cutis congenita of limb (disorder) Occurrence True Congenital Inferred relationship Some 1
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) Occurrence False Congenital Inferred relationship Some 1
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital intrahepatic portal-systemic shunt Occurrence True Congenital Inferred relationship Some 1
Scimitar syndrome with additional anomalous pulmonary venous connection (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital bilateral perisylvian syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Atresia of larynx and trachea Occurrence True Congenital Inferred relationship Some 1
Left ventricular outflow tract obstruction due to atrioventricular valve (disorder) Occurrence False Congenital Inferred relationship Some 1
Anophthalmos Occurrence True Congenital Inferred relationship Some 1
Combined deficiency of sialidase AND beta galactosidase Occurrence True Congenital Inferred relationship Some 1
Cleft hard palate with left cleft lip (disorder) Occurrence True Congenital Inferred relationship Some 1
Hyperplasia of islet alpha cells with glucagon excess Occurrence True Congenital Inferred relationship Some 1
Postaxial polydactyly of toe Occurrence True Congenital Inferred relationship Some 1
Congenital perforation of the nasal sinus wall Occurrence True Congenital Inferred relationship Some 1
Ophthalmomandibulomelic dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Ophthalmomandibulomelic dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 2
Incomplete ossification of nasal bone Occurrence True Congenital Inferred relationship Some 1
Congenital anterior staphyloma Occurrence True Congenital Inferred relationship Some 1
Dicephalus dipus tribrachius Occurrence True Congenital Inferred relationship Some 1
Brachydactyly and distal symphalangism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Spondylodysplasia, Luton type Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Angio-osteohypertrophic syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital abnormality of right atrioventricular valve chordae tendinae in double inlet ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
Fibroblast growth factor receptor 3-related craniosynostosis (disorder) Occurrence True Congenital Inferred relationship Some 1
X-linked ichthyosis with steryl-sulfatase deficiency Occurrence True Congenital Inferred relationship Some 1
Choroidal atrophy and alopecia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Choroidal atrophy and alopecia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2

Start Previous Page 271 of 330 Next End


This concept is not in any reference sets

Back to Start