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
Congenital tracheo-oesophageal fistula with oesophageal stenosis Occurrence True Congenital Inferred relationship Some 1
Congenital tracheo-oesophageal fistula with oesophageal stenosis Occurrence True Congenital Inferred relationship Some 2
Carpotarsal osteochondromatosis Occurrence True Congenital Inferred relationship Some 1
Faciocardiorenal syndrome Occurrence True Congenital Inferred relationship Some 1
Faciocardiorenal syndrome Occurrence True Congenital Inferred relationship Some 2
Auriculoocular anomaly and cleft lip syndrome Occurrence False Congenital Inferred relationship Some 2
Aniridia, renal agenesis, psychomotor retardation syndrome Occurrence True Congenital Inferred relationship Some 1
Precocious osteodysplasty Occurrence True Congenital Inferred relationship Some 1
Steinfeld syndrome Occurrence True Congenital Inferred relationship Some 1
Arachnoid / ependymal cyst Occurrence False Congenital Inferred relationship Some 1
Heart-hand syndrome type 2 Occurrence True Congenital Inferred relationship Some 1
Anencephalus and similar anomalies Occurrence False Congenital Inferred relationship Some 1
Laryngeal cleft type III Occurrence True Congenital Inferred relationship Some 1
Thymic aplasia or dysplasia with immunodeficiency Occurrence True Congenital Inferred relationship Some 1
Multiple intracardiac shunts Occurrence True Congenital Inferred relationship Some 1
Double aortic valve Occurrence True Congenital Inferred relationship Some 1
Cryptophthalmos syndrome Occurrence True Congenital Inferred relationship Some 1
Craniolenticulosutural dysplasia Occurrence True Congenital Inferred relationship Some 3
Craniolenticulosutural dysplasia Occurrence True Congenital Inferred relationship Some 1
Craniolenticulosutural dysplasia Occurrence True Congenital Inferred relationship Some 2
Osteogenesis imperfecta type IIA Occurrence True Congenital Inferred relationship Some 1
14q11.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 2
14q11.2 microdeletion syndrome Occurrence True Congenital Inferred relationship Some 1
Microspherophakia with metaphyseal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Microspherophakia with metaphyseal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 2
Ulnar dimelia Occurrence True Congenital Inferred relationship Some 1
Right descending aorta Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with ventricular component under superior bridging leaflet without chordal attachment to ventricular septal crest Occurrence True Congenital Inferred relationship Some 1
Endocardial fibroelastosis of left atrium Occurrence True Congenital Inferred relationship Some 1
Segmental neurofibromatosis Occurrence True Congenital Inferred relationship Some 1
Albinoidism Occurrence False Congenital Inferred relationship Some 1
Incomplete bilateral cleft palate Occurrence True Congenital Inferred relationship Some 1
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Occurrence False Congenital Inferred relationship Some 3
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Occurrence False Congenital Inferred relationship Some 1
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Occurrence False Congenital Inferred relationship Some 2
Townes syndrome Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa simplex with hypodontia Occurrence True Congenital Inferred relationship Some 1
Lissencephaly type 3 metacarpal bone dysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Occurrence True Congenital Inferred relationship Some 2
Talipomanus Occurrence True Congenital Inferred relationship Some 1
Mixed sclerosing bone dysplasia Occurrence True Congenital Inferred relationship Some 1
Cleidocranial dysostosis Occurrence True Congenital Inferred relationship Some 3
Cleidocranial dysostosis Occurrence True Congenital Inferred relationship Some 1
Cleidocranial dysostosis Occurrence True Congenital Inferred relationship Some 4
Cleidocranial dysostosis Occurrence True Congenital Inferred relationship Some 2
Retrocaval ureter Occurrence True Congenital Inferred relationship Some 1
Chondrodysplasia punctata Occurrence True Congenital Inferred relationship Some 1
Cataract glaucoma syndrome Occurrence True Congenital Inferred relationship Some 1
X-linked distal arthrogryposis multiplex congenita Occurrence True Congenital Inferred relationship Some 1
Nemaline myopathy Occurrence False Congenital Inferred relationship Some 1
Hydatid cyst of Morgagni - male Occurrence True Congenital Inferred relationship Some 1
Birthmark Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of maxilla Occurrence True Congenital Inferred relationship Some 1
Sparse hair with short stature and skin anomaly syndrome Occurrence False Congenital Inferred relationship Some 1
Sparse hair with short stature and skin anomaly syndrome Occurrence False Congenital Inferred relationship Some 2
Siegler Brewer Carey syndrome Occurrence True Congenital Inferred relationship Some 1
Spondylodysplasia Occurrence True Congenital Inferred relationship Some 1
Spina bifida with stenosis of aqueduct of Sylvius Occurrence True Congenital Inferred relationship Some 3
Ectodermal dysplasia with hair-tooth defects Occurrence True Congenital Inferred relationship Some 1
DOORS syndrome Occurrence True Congenital Inferred relationship Some 2
DOORS syndrome Occurrence False Congenital Inferred relationship Some 4
DOORS syndrome Occurrence True Congenital Inferred relationship Some 3
DOORS syndrome Occurrence True Congenital Inferred relationship Some 1
Sialic acid storage disease, severe infantile type Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Stimmler syndrome Occurrence True Congenital Inferred relationship Some 1
Stimmler syndrome Occurrence True Congenital Inferred relationship Some 2
Osteopathia striata Occurrence True Congenital Inferred relationship Some 1
False tendon - heart Occurrence True Congenital Inferred relationship Some 1
Double cardiac valve orifice Occurrence True Congenital Inferred relationship Some 1
Netherton's syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital arteriovenous fistula thrombosis Occurrence True Congenital Inferred relationship Some 1
Craniopagus Occurrence False Congenital Inferred relationship Some 1
Retrosternal thyroid gland Occurrence True Congenital Inferred relationship Some 1
CEDNIK syndrome Occurrence True Congenital Inferred relationship Some 1
CEDNIK syndrome Occurrence True Congenital Inferred relationship Some 2
Synophrys Occurrence True Congenital Inferred relationship Some 1
Crouzon syndrome with acanthosis nigricans Occurrence True Congenital Inferred relationship Some 3
Crouzon syndrome with acanthosis nigricans Occurrence True Congenital Inferred relationship Some 2
Cataract, congenital heart disease, neural tube defect syndrome Occurrence True Congenital Inferred relationship Some 2
Cataract, congenital heart disease, neural tube defect syndrome Occurrence True Congenital Inferred relationship Some 1
Cataract, congenital heart disease, neural tube defect syndrome Occurrence True Congenital Inferred relationship Some 4
Cataract, congenital heart disease, neural tube defect syndrome Occurrence True Congenital Inferred relationship Some 3
Multiple epiphyseal dysplasia Beighton type Occurrence True Congenital Inferred relationship Some 1
Odontomicronychial ectodermal dysplasia Occurrence True Congenital Inferred relationship Some 1
Cherubism with gingival fibromatosis Occurrence True Congenital Inferred relationship Some 2
Dolichocolon Occurrence True Congenital Inferred relationship Some 1
Triangular alopecia Occurrence True Congenital Inferred relationship Some 1
Defect of skull ossification Occurrence True Congenital Inferred relationship Some 1
Accessory sternebral ossification site Occurrence True Congenital Inferred relationship Some 2
Accessory sternebral ossification site Occurrence True Congenital Inferred relationship Some 1
Uhl's disease Occurrence True Congenital Inferred relationship Some 1
Uterus bicameratus vetularum Occurrence True Congenital Inferred relationship Some 1
Preaxial polydactyly, colobomata, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Osteochondrodysplasia with osteopetrosis Occurrence True Congenital Inferred relationship Some 1
Spherophakia Occurrence True Congenital Inferred relationship Some 1
Beckwith-Wiedemann syndrome Occurrence True Congenital Inferred relationship Some 2
Ehlers-Danlos syndrome classic type Occurrence True Congenital Inferred relationship Some 1
Chondrodysplasia punctata, X-linked dominant type Occurrence True Congenital Inferred relationship Some 1
Frontometaphyseal dysplasia Occurrence True Congenital Inferred relationship Some 1
Amaurosis hypertrichosis syndrome Occurrence True Congenital Inferred relationship Some 2

Start Previous Page 14 of 329 Next End

Reference Sets

Qualifier value foundation reference set

Back to Start