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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
X-linked dominant chondrodysplasia Chassaing Lacombe type Occurrence True Congenital Inferred relationship Some 1
Preaxial polydactyly of toe Occurrence True Congenital Inferred relationship Some 1
Brachymetapody Occurrence False Congenital Inferred relationship Some 1
Brachymetapody Occurrence False Congenital Inferred relationship Some 2
Short stature Brussels type Occurrence True Congenital Inferred relationship Some 2
Short stature Brussels type Occurrence True Congenital Inferred relationship Some 1
Eiken syndrome Occurrence True Congenital Inferred relationship Some 1
Eiken syndrome Occurrence True Congenital Inferred relationship Some 2
Spondylodysplasia, Torrance type Occurrence True Congenital Inferred relationship Some 1
Cystic testicular dysplasia Occurrence True Congenital Inferred relationship Some 1
Podencephalus Occurrence False Congenital Inferred relationship Some 1
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome Occurrence True Congenital Inferred relationship Some 1
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 2
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome 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
CLOVES syndrome Occurrence True Congenital Inferred relationship Some 2
Ectodermal dysplasia with tooth-nail-sweating defect Occurrence True Congenital Inferred relationship Some 1
Colour 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 True Congenital Inferred relationship Some 3
Left ventricular outflow tract obstruction due to prolapsed arterial valve Occurrence False Congenital Inferred relationship Some 1
Geographic retinal dysplasia Occurrence True Congenital Inferred relationship Some 1
Microcephaly with albinism and digital anomaly syndrome Occurrence True Congenital Inferred relationship Some 2
Microcephaly with albinism and digital anomaly syndrome Occurrence True Congenital Inferred relationship Some 3
Microcephaly with albinism and digital anomaly syndrome Occurrence True Congenital Inferred relationship Some 1
Hyperplastic chondrodystrophy Occurrence False Congenital Inferred relationship Some 2
Oculogastrointestinal muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Heart-hand syndrome type 3 Occurrence True Congenital Inferred relationship Some 3
Heart-hand syndrome type 3 Occurrence True Congenital Inferred relationship Some 1
Heart-hand syndrome type 3 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 Occurrence False Congenital Inferred relationship Some 1
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome 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
Bowed tibia, radial anomaly, osteopenia, fracture syndrome Occurrence False Congenital Inferred relationship Some 1
Derencephalus Occurrence True Congenital Inferred relationship Some 1
Bruck syndrome Occurrence False Congenital Inferred relationship Some 1
Reifenstein syndrome 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
Oculo-palato-cerebral syndrome Occurrence True Congenital Inferred relationship Some 1
Oculo-palato-cerebral syndrome 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 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
Recessive aplasia cutis congenita of limbs Occurrence True Congenital Inferred relationship Some 1
Hennekam Beemer syndrome Occurrence False Congenital Inferred relationship Some 1
Hennekam Beemer syndrome 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 Occurrence True Congenital Inferred relationship Some 1
Congenital bilateral perisylvian syndrome 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 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 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 Occurrence True Congenital Inferred relationship Some 1
Ophthalmomandibulomelic dysplasia 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
Sillence syndrome 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 Occurrence True Congenital Inferred relationship Some 2
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Occurrence True Congenital Inferred relationship Some 1
Angio-osteohypertrophic syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital abnormality of right atrioventricular valve chordae tendinae in double inlet ventricle Occurrence True Congenital Inferred relationship Some 1
Fibroblast growth factor receptor 3-related craniosynostosis 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 Occurrence True Congenital Inferred relationship Some 3
Choroidal atrophy and alopecia syndrome Occurrence True Congenital Inferred relationship Some 2
Choroidal atrophy and alopecia syndrome Occurrence True Congenital Inferred relationship Some 1
Choroidal atrophy and alopecia syndrome Occurrence False Congenital Inferred relationship Some 4
Hallermann-Streiff syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital obstructive megaureter Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of arch of sacral vertebra Occurrence True Congenital Inferred relationship Some 1
Namaqualand hip dysplasia Occurrence True Congenital Inferred relationship Some 1
Congenital stenosis of trachea due to complete rings Occurrence False Congenital Inferred relationship Some 1
Microcephaly, seizure, intellectual disability, heart disease syndrome Occurrence True Congenital Inferred relationship Some 1
Microcephaly, seizure, intellectual disability, heart disease syndrome Occurrence True Congenital Inferred relationship Some 2
Scrotal hypospadias Occurrence True Congenital Inferred relationship Some 1
Polydactyly myopia syndrome Occurrence True Congenital Inferred relationship Some 1
Radial polydactyly Occurrence True Congenital Inferred relationship Some 1
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Occurrence True Congenital Inferred relationship Some 2
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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