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
Distal limb deficiency with micrognathia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Pachydermoperiostosis of nail Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of ulna and split foot syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypoplasia of ulna and split foot syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital hypoplasia of ulna and split foot syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Embryonic cyst of ovary Occurrence True Congenital Inferred relationship Some 1
Dumbbell ossification of centrum of sacral vertebra Occurrence True Congenital Inferred relationship Some 1
Hyperphosphatasia-osteoectasia syndrome Occurrence True Congenital Inferred relationship Some 1
Thoracic hemivertebra Occurrence True Congenital Inferred relationship Some 1
Congenital polyp of ureter Occurrence True Congenital Inferred relationship Some 1
Isolation of right common carotid artery (disorder) Occurrence True Congenital Inferred relationship Some 1
Ligase 4 syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital bowing of tibia, fibula and femur Occurrence True Congenital Inferred relationship Some 1
Familial absence of villi Occurrence True Congenital Inferred relationship Some 1
Spina bifida occulta Occurrence True Congenital Inferred relationship Some 2
Congenital iris ectropion (disorder) Occurrence True Congenital Inferred relationship Some 1
Right ventricular outflow tract obstruction due to septoparietal trabeculation (disorder) Occurrence False Congenital Inferred relationship Some 1
Incomplete ossification of calcaneus Occurrence True Congenital Inferred relationship Some 1
Vomero-premaxillary faciosynostosis Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta, recessive perinatal lethal Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia with hair-tooth-nail-sweating defect Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa simplex with pyloric atresia Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa simplex with pyloric atresia Occurrence True Congenital Inferred relationship Some 2
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) Occurrence True Congenital Inferred relationship Some 4
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) Occurrence True Congenital Inferred relationship Some 3
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) Occurrence True Congenital Inferred relationship Some 2
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) Occurrence True Congenital Inferred relationship Some 1
Posteromedial muscle band Occurrence True Congenital Inferred relationship Some 1
Omphalocele - irreducible Occurrence True Congenital Inferred relationship Some 1
Congenital lobar emphysema Occurrence True Congenital Inferred relationship Some 1
Congenital lobar emphysema Occurrence True Congenital Inferred relationship Some 2
Splenoportal vascular anomaly Occurrence True Congenital Inferred relationship Some 1
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Acrocallosal syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Acrocallosal syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Acrodysostosis Occurrence True Congenital Inferred relationship Some 3
Aplasia cutis with myopia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital bronchobiliary fistula (disorder) Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of squamosal bone Occurrence True Congenital Inferred relationship Some 1
medfödda störningar av öga och ögonlocksrörelser Occurrence False Congenital Inferred relationship Some 1
Bilateral congenital absence of feet (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital bronchomalacia Occurrence True Congenital Inferred relationship Some 1
Kozlowski spondylometaphyseal dysplasia Occurrence True Congenital Inferred relationship Some 1
Right ventricular outflow tract obstruction due to aneurysm of membranous septum (disorder) Occurrence False Congenital Inferred relationship Some 1
Achondrogenesis, type IA Occurrence True Congenital Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Occurrence True Congenital Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Occurrence True Congenital Inferred relationship Some 1
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Occurrence True Congenital Inferred relationship Some 3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Occurrence True Congenital Inferred relationship Some 2
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Occurrence True Congenital Inferred relationship Some 1
X-linked intellectual disability with plagiocephaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
X-linked intellectual disability with plagiocephaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Thoracic myelocystocele Occurrence True Congenital Inferred relationship Some 2
Metaphyseal anadysplasia Occurrence True Congenital Inferred relationship Some 1
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) Occurrence True Congenital Inferred relationship Some 1
Temporo-auro-mandibular dysostosis Occurrence True Congenital Inferred relationship Some 1
Generalized dystrophic epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
MEHMO syndrome Occurrence True Congenital Inferred relationship Some 1
Haim Munk syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Book syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Preductal coarctation of aorta Occurrence True Congenital Inferred relationship Some 1
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Cranial duplication Occurrence True Congenital Inferred relationship Some 1
Congenital pelvic obliquity (disorder) Occurrence True Congenital Inferred relationship Some 1
Noonan syndrome-like disorder with loose anagen hair (disorder) Occurrence True Congenital Inferred relationship Some 1
Noonan syndrome-like disorder with loose anagen hair (disorder) Occurrence True Congenital Inferred relationship Some 2
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Retinal arteriovenous malformation Occurrence True Congenital Inferred relationship Some 1
Right ventricular outflow tract obstruction due to malaligned outlet septum (disorder) Occurrence False Congenital Inferred relationship Some 1
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Occurrence True Congenital Inferred relationship Some 1
GM1 gangliosidosis Occurrence True Congenital Inferred relationship Some 1
Incomplete formation of bony cochlea Occurrence True Congenital Inferred relationship Some 1
Arteriovenous malformation of frontonasal process Occurrence True Congenital Inferred relationship Some 1
Arteriovenous malformation of frontonasal process Occurrence True Congenital Inferred relationship Some 2
Incomplete ossification of interparietal bone Occurrence True Congenital Inferred relationship Some 1
Congenital uterointestinal fistula Occurrence True Congenital Inferred relationship Some 1
Neonatal cutis laxa with marfanoid phenotype Occurrence True Congenital Inferred relationship Some 1
Horseshoe kidney Occurrence True Congenital Inferred relationship Some 1
McCune Albright syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
McCune Albright syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
McCune Albright syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Trigonocephaly C syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital chordee Occurrence True Congenital Inferred relationship Some 1
Bohring Opitz syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Zebra body myopathy Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Occurrence True Congenital Inferred relationship Some 1
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) Occurrence False Congenital Inferred relationship Some 2
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Malrotation of colon and cecum Occurrence True Congenital Inferred relationship Some 1
Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Dysosteosclerosis Occurrence True Congenital Inferred relationship Some 1

Start Previous Page 279 of 330 Next End


This concept is not in any reference sets

Back to Start