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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
Congenital arteriovenous fistula stenosis Occurrence True Congenital Inferred relationship Some 1
Testicular regression syndrome Occurrence True Congenital Inferred relationship Some 1
Cranioosteoarthropathy (disorder) Occurrence True Congenital Inferred relationship Some 1
Sternum bifidum Occurrence True Congenital Inferred relationship Some 1
Mietens syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital phlebectasia Occurrence False Congenital Inferred relationship Some 1
Junctional epidermolysis bullosa (disorder) Occurrence True Congenital Inferred relationship Some 1
Hypertelorism Occurrence True Congenital Inferred relationship Some 1
Hay-Wells syndrome of ectodermal dysplasia Occurrence True Congenital Inferred relationship Some 3
Spondyloepimetaphyseal dysplasia aggrecan type (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital rectovaginal fistula Occurrence True Congenital Inferred relationship Some 1
Cutis laxa, x-linked Occurrence True Congenital Inferred relationship Some 1
Mannosidosis, type I Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with ventricular imbalance consisting of dominant right ventricle and hypoplastic left ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital tracheoesophageal fistula with esophageal stenosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital tracheoesophageal fistula with esophageal stenosis (disorder) Occurrence True Congenital Inferred relationship Some 2
Carpotarsal osteochondromatosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Faciocardiorenal syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Faciocardiorenal syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
syndrom med aurikulookulär anomali och läppspalt Occurrence False Congenital Inferred relationship Some 2
Aniridia, renal agenesis, psychomotor retardation syndrome Occurrence True Congenital Inferred relationship Some 1
Precocious osteodysplasty (disorder) Occurrence True Congenital Inferred relationship Some 1
Steinfeld syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
araknoidal eller ependymal cysta Occurrence False Congenital Inferred relationship Some 1
Heart-hand syndrome type 2 (disorder) Occurrence True Congenital Inferred relationship Some 1
anencefali och liknande missbildningar 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 (disorder) Occurrence True Congenital Inferred relationship Some 3
Craniolenticulosutural dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Craniolenticulosutural dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 2
Osteogenesis imperfecta type IIA Occurrence True Congenital Inferred relationship Some 1
14q11.2 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
14q11.2 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Microspherophakia with metaphyseal dysplasia syndrome (disorder) 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 (disorder) Occurrence True Congenital Inferred relationship Some 1
Endocardial fibroelastosis of left atrium (disorder) 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
syndrom med kraniosynostos med ansiktsmissbildning och brakydaktyli Occurrence False Congenital Inferred relationship Some 3
syndrom med kraniosynostos med ansiktsmissbildning och brakydaktyli Occurrence False Congenital Inferred relationship Some 1
syndrom med kraniosynostos med ansiktsmissbildning och brakydaktyli Occurrence False Congenital Inferred relationship Some 2
Townes syndrome Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa simplex with hypodontia (disorder) Occurrence True Congenital Inferred relationship Some 1
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Talipomanus Occurrence True Congenital Inferred relationship Some 1
Mixed sclerosing bone dysplasia (disorder) 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 (disorder) Occurrence True Congenital Inferred relationship Some 1
X-linked distal arthrogryposis multiplex congenita (disorder) 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
syndrom med sparsam hårväxt, kortvuxenhet och missbildning i huden Occurrence False Congenital Inferred relationship Some 1
syndrom med sparsam hårväxt, kortvuxenhet och missbildning i huden Occurrence False Congenital Inferred relationship Some 2
Siegler Brewer Carey syndrome (disorder) 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
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) 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
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Synophrys Occurrence True Congenital Inferred relationship Some 1
Crouzon syndrome with acanthosis nigricans (disorder) Occurrence True Congenital Inferred relationship Some 3
Crouzon syndrome with acanthosis nigricans (disorder) Occurrence True Congenital Inferred relationship Some 2
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Multiple epiphyseal dysplasia Beighton type (disorder) Occurrence True Congenital Inferred relationship Some 1
Odontomicronychial ectodermal dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Cherubism with gingival fibromatosis (disorder) Occurrence True Congenital Inferred relationship Some 2
Dolichocolon Occurrence True Congenital Inferred relationship Some 1

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