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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 absence of bladder and urethra (disorder) Occurrence True Congenital Inferred relationship Some 1
Partial anomalous pulmonary venous connection of part of right lung (disorder) Occurrence True Congenital Inferred relationship Some 1
Hadziselimovic syndrome Occurrence True Congenital Inferred relationship Some 3
Hadziselimovic syndrome Occurrence True Congenital Inferred relationship Some 2
Hadziselimovic syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder) Occurrence True Congenital Inferred relationship Some 1
Bipartite ossification of supraoccipital bone Occurrence True Congenital Inferred relationship Some 1
Prune belly syndrome Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with restrictive ventricular component (disorder) Occurrence True Congenital Inferred relationship Some 1
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Common arterial trunk with obstruction of aortic arch (disorder) Occurrence True Congenital Inferred relationship Some 1
Lissencephaly with cerebellar hypoplasia type F Occurrence True Congenital Inferred relationship Some 1
Achondrogenesis Occurrence True Congenital Inferred relationship Some 1
Worth disease Occurrence True Congenital Inferred relationship Some 1
Aortico-left ventricular tunnel with intracardiac aneurysm of septal portion (disorder) Occurrence True Congenital Inferred relationship Some 1
Anodontia of primary dentition Occurrence True Congenital Inferred relationship Some 1
Polyostotic fibrous dysplasia of bone Occurrence True Congenital Inferred relationship Some 1
Congenital pontocerebellar hypoplasia type 1 (disorder) Occurrence True Congenital Inferred relationship Some 1
Penoscrotal hypospadias (disorder) Occurrence True Congenital Inferred relationship Some 1
Partial anomalous pulmonary venous connection of part of left lung (disorder) Occurrence True Congenital Inferred relationship Some 1
X-linked retinal dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
syndrom med osteopeni, myopi, dövhet, intellektuell funktionsnedsättning och medfödd ansiktsmissbildning Occurrence False Congenital Inferred relationship Some 1
syndrom med osteopeni, myopi, dövhet, intellektuell funktionsnedsättning och medfödd ansiktsmissbildning Occurrence False Congenital Inferred relationship Some 2
Idiopathic multicentric osteolysis Occurrence True Congenital Inferred relationship Some 1
Atresia and stenosis of aorta Occurrence True Congenital Inferred relationship Some 1
Ullrich congenital muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia with hair-tooth-nail defects Occurrence True Congenital Inferred relationship Some 1
Nievergelt's syndrome Occurrence True Congenital Inferred relationship Some 1
Cardiocranial syndrome Pfeiffer type (disorder) Occurrence True Congenital Inferred relationship Some 1
Bilateral muscular infundibula Occurrence True Congenital Inferred relationship Some 1
Aortico-left ventricular tunnel of simple type (disorder) Occurrence True Congenital Inferred relationship Some 1
Cervical hemivertebra Occurrence True Congenital Inferred relationship Some 1
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia and sensorineural deafness syndrome Occurrence True Congenital Inferred relationship Some 2
Ectodermal dysplasia and sensorineural deafness syndrome Occurrence True Congenital Inferred relationship Some 1
Frontonasal dysplasia sequence Occurrence True Congenital Inferred relationship Some 1
Heide syndrome Occurrence True Congenital Inferred relationship Some 1
Heide syndrome Occurrence True Congenital Inferred relationship Some 2
Right superior vena cava connecting to coronary sinus (disorder) Occurrence True Congenital Inferred relationship Some 2
Right superior vena cava connecting to coronary sinus (disorder) Occurrence True Congenital Inferred relationship Some 1
Arteriovenous malformation of face (disorder) Occurrence True Congenital Inferred relationship Some 1
Carpenter-Waziris syndrom Occurrence False Congenital Inferred relationship Some 1
Congenital partial portal-systemic shunt Occurrence True Congenital Inferred relationship Some 1
Melorheostosis Occurrence True Congenital Inferred relationship Some 1
Melorheostosis Occurrence True Congenital Inferred relationship Some 2
Cutaneous lesion resulting from spinal dysraphism (disorder) Occurrence False Congenital Inferred relationship Some 1
Hall Riggs syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Hall Riggs syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Hall Riggs syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Venous remnant Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of zygomatic bone Occurrence True Congenital Inferred relationship Some 1
Microtia Occurrence True Congenital Inferred relationship Some 1
Congenital degeneration of nervous system Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta, dominant perinatal lethal Occurrence True Congenital Inferred relationship Some 1
Wolcott-Rallison dysplasia Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia with sweating defect Occurrence True Congenital Inferred relationship Some 1
Congenital urethrovaginal fistula (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital transverse mandibular hypoplasia Occurrence True Congenital Inferred relationship Some 1
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 5
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Trichothiodystrophy (disorder) Occurrence True Congenital Inferred relationship Some 2
Trichothiodystrophy (disorder) Occurrence True Congenital Inferred relationship Some 1
Sacral spina bifida without hydrocephalus - open (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital eventration of right crus of diaphragm Occurrence True Congenital Inferred relationship Some 1
kongenital anomali av foster Occurrence False Congenital Inferred relationship Some 1
Mannosidosis, type II (disorder) Occurrence True Congenital Inferred relationship Some 1
Ameloonychohypohidrotic syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Straddling tricuspid valve Occurrence True Congenital Inferred relationship Some 1
Agenesis of left kidney co-occurrent with congenital dysplasia of right kidney (disorder) Occurrence True Congenital Inferred relationship Some 1
Maxillary dysostosis Occurrence True Congenital Inferred relationship Some 1
Cicatricial junctional epidermolysis bullosa Occurrence True Congenital Inferred relationship Some 1
Café-au-lait macules with temporal dysrhythmia (disorder) Occurrence True Congenital Inferred relationship Some 1
Phocomelia Occurrence True Congenital Inferred relationship Some 1
Naxos disease Occurrence True Congenital Inferred relationship Some 2
Metaphyseal chondrodysplasia, Sedaghatian type (disorder) Occurrence True Congenital Inferred relationship Some 1
Double inlet ventricle Occurrence True Congenital Inferred relationship Some 1
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type C (disorder) Occurrence True Congenital Inferred relationship Some 1
Desbuquois syndrome Occurrence True Congenital Inferred relationship Some 1
Isolation of branch of aortic arch Occurrence True Congenital Inferred relationship Some 1
Dermatoosteolysis Kirghizian type (disorder) Occurrence False Congenital Inferred relationship Some 2
Dermatoosteolysis Kirghizian type (disorder) Occurrence True Congenital Inferred relationship Some 1
Salamon's syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Pelviscapular dysplasia Occurrence True Congenital Inferred relationship Some 1
Right ventricular outflow tract obstruction due to septal hypertrophy (disorder) Occurrence False Congenital Inferred relationship Some 1
Partial anomalous pulmonary venous connection with anomalous veins connecting first to pulmonary venous confluence (disorder) Occurrence True Congenital Inferred relationship Some 1
syndrom med mikrocefali, intellektuell funktionsnedsättning samt falangeal och neurologisk anomali Occurrence False Congenital Inferred relationship Some 1
syndrom med mikrocefali, intellektuell funktionsnedsättning samt falangeal och neurologisk anomali Occurrence False Congenital Inferred relationship Some 2
Genochondromatosis type 2 (disorder) Occurrence True Congenital Inferred relationship Some 1
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder) Occurrence True Congenital Inferred relationship Some 1
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
dysplasigrupp med korta revben, med eller utan polydaktyli Occurrence False Congenital Inferred relationship Some 1
Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Gnathodiaphyseal dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1

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