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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
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Occurrence True Congenital Inferred relationship Some 1
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome Occurrence True Congenital Inferred relationship Some 2
Trichorhinophalangeal syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital branched rib cartilage Occurrence True Congenital Inferred relationship Some 1
Dandy-Walker syndrome Occurrence True Congenital Inferred relationship Some 2
Robinow syndrome Occurrence True Congenital Inferred relationship Some 1
Worster Drought syndrome Occurrence True Congenital Inferred relationship Some 1
PELVIS syndrome Occurrence True Congenital Inferred relationship Some 1
Right ventricle to left of left ventricle Occurrence True Congenital Inferred relationship Some 1
Congenital absence of anus with fistula Occurrence True Congenital Inferred relationship Some 1
Jugular lymphatic obstruction sequence Occurrence True Congenital Inferred relationship Some 1
Primary renal dysplasia Occurrence True Congenital Inferred relationship Some 1
Male pseudohermaphroditism Occurrence True Congenital Inferred relationship Some 1
Spinal cord dysplasia Occurrence True Congenital Inferred relationship Some 1
Encephalomyelocele Occurrence True Congenital Inferred relationship Some 1
Congenital dysplasia of patella Occurrence True Congenital Inferred relationship Some 1
Congenital dysplasia of patella Occurrence False Congenital Inferred relationship Some 2
Fetal intrauterine intestinal perforation co-occurrent and due to congenital atresia of intestinal tract Occurrence True Congenital Inferred relationship Some 1
Dyggve-Melchior-Clausen syndrome Occurrence True Congenital Inferred relationship Some 1
Cleft hard palate with right cleft lip Occurrence True Congenital Inferred relationship Some 1
Hyperphosphatasaemia tarda Occurrence False Congenital Inferred relationship Some 2
Cervical hemivertebra - unbalanced Occurrence True Congenital Inferred relationship Some 1
Heart-hand syndrome Slovenian type Occurrence True Congenital Inferred relationship Some 2
Heart-hand syndrome Slovenian type Occurrence True Congenital Inferred relationship Some 1
Stern Lubinsky Durrie syndrome Occurrence False Congenital Inferred relationship Some 2
Stern Lubinsky Durrie syndrome Occurrence True Congenital Inferred relationship Some 1
Axenfeld anomaly Occurrence True Congenital Inferred relationship Some 1
Singleton-Merten syndrome Occurrence True Congenital Inferred relationship Some 1
Patent foramen ovale Occurrence True Congenital Inferred relationship Some 1
Pelvis shoulder dysplasia Occurrence True Congenital Inferred relationship Some 1
Fryns macrocephaly Occurrence False Congenital Inferred relationship Some 2
Fryns macrocephaly Occurrence True Congenital Inferred relationship Some 3
Humeroulnar synostosis Occurrence True Congenital Inferred relationship Some 1
Acrorenal syndrome Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of alisphenoid bone Occurrence True Congenital Inferred relationship Some 1
Osteopoikilosis Occurrence True Congenital Inferred relationship Some 1
Congenital pulmonary hypoplasia due to prolonged premature rupture of membranes Occurrence True Congenital Inferred relationship Some 1
Intrahepatic biliary hypoplasia Occurrence True Congenital Inferred relationship Some 1
Pure gonadal dysgenesis 46,XX Occurrence True Congenital Inferred relationship Some 2
Atrioventricular septal defect - ventricular component under superior bridging leaflet Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa simplex herpetiformis Occurrence True Congenital Inferred relationship Some 1
Hepatomphalocele Occurrence True Congenital Inferred relationship Some 1
Atretocephalus Occurrence False Congenital Inferred relationship Some 1
Renier Gabreels Jasper syndrome Occurrence False Congenital Inferred relationship Some 1
Congenital contractural arachnodactyly Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive distal osteolysis syndrome Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive distal osteolysis syndrome Occurrence True Congenital Inferred relationship Some 2
Neutropenia, monocytopenia, deafness syndrome Occurrence True Congenital Inferred relationship Some 2
Oculocerebral dysplasia syndrome Occurrence False Congenital Inferred relationship Some 1
Congenital localised alopecia Occurrence True Congenital Inferred relationship Some 1
Idiopathic osteolyses Occurrence False Congenital Inferred relationship Some 1
Congenital endaural hernia Occurrence False Congenital Inferred relationship Some 1
Fusion of mandibular incisor teeth Occurrence False Congenital Inferred relationship Some 1
Atresia of pulmonary artery with septal defect Occurrence True Congenital Inferred relationship Some 1
Total anomalous pulmonary venous connections of mixed type Occurrence True Congenital Inferred relationship Some 1
Ectopic gastric mucosa Occurrence True Congenital Inferred relationship Some 1
Gardner syndrome Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of palatine bone Occurrence True Congenital Inferred relationship Some 1
Encephalocystocele Occurrence True Congenital Inferred relationship Some 1
Encephalocystocele Occurrence True Congenital Inferred relationship Some 2
Brachydactyly and preaxial hallux varus syndrome Occurrence True Congenital Inferred relationship Some 1
Schneckenbecken dysplasia Occurrence True Congenital Inferred relationship Some 1
Congenital abnormality of right atrioventricular valve in double inlet ventricle Occurrence True Congenital Inferred relationship Some 1
Persistent omphalomesenteric artery Occurrence True Congenital Inferred relationship Some 1
Chondrodysplasia with disorder of sex development syndrome Occurrence True Congenital Inferred relationship Some 2
Chondrodysplasia with disorder of sex development syndrome Occurrence True Congenital Inferred relationship Some 1
Acrofacial dysostosis Kennedy Teebi type Occurrence True Congenital Inferred relationship Some 1
Congenital vesicoureterorenal reflux Occurrence True Congenital Inferred relationship Some 1
Spina bifida with hydrocephalus Occurrence True Congenital Inferred relationship Some 3
Congenital stenosis of trachea due to tracheal web Occurrence False Congenital Inferred relationship Some 1
Lenz-Majewski hyperostosis syndrome Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa simplex with mottled pigmentation Occurrence True Congenital Inferred relationship Some 1
Radioulnar synostosis with developmental delay and hypotonia syndrome Occurrence True Congenital Inferred relationship Some 1
Radioulnar synostosis with developmental delay and hypotonia syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital transposition of stomach Occurrence True Congenital Inferred relationship Some 1
Jackson-Weiss syndrome Occurrence True Congenital Inferred relationship Some 1
Jackson-Weiss syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital arteriovenous fistula rupture Occurrence True Congenital Inferred relationship Some 1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome Occurrence True Congenital Inferred relationship Some 3
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome Occurrence True Congenital Inferred relationship Some 1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome Occurrence True Congenital Inferred relationship Some 2
Jarcho-Levin syndrome Occurrence True Congenital Inferred relationship Some 1
Periodontitis co-occurrent with Chédiak-Higashi syndrome Occurrence False Congenital Inferred relationship Some 1
Von Voss-Cherstvoy syndrome Occurrence True Congenital Inferred relationship Some 3
Von Voss-Cherstvoy syndrome Occurrence True Congenital Inferred relationship Some 1
Chondrodysplasia punctata, X-linked recessive type Occurrence True Congenital Inferred relationship Some 1
Right ventricular fibromuscular infundibular stenosis Occurrence False Congenital Inferred relationship Some 1
Ruvalcaba-Myhre syndrome Occurrence False Congenital Inferred relationship Some 1
Cranial hydromeningocele Occurrence False Congenital Inferred relationship Some 2
Isolated dextrocardia Occurrence False Congenital Inferred relationship Some 1
Microcephaly with cardiac defect and lung malsegmentation syndrome Occurrence True Congenital Inferred relationship Some 2
Microcephaly with cardiac defect and lung malsegmentation syndrome Occurrence True Congenital Inferred relationship Some 1
Hepatic vein to right sided atrium Occurrence True Congenital Inferred relationship Some 1
Chitty Hall Baraitser syndrome Occurrence True Congenital Inferred relationship Some 1
Chitty Hall Baraitser syndrome Occurrence True Congenital Inferred relationship Some 2
Oculotrichodysplasia Occurrence True Congenital Inferred relationship Some 2
Oculotrichodysplasia Occurrence True Congenital Inferred relationship Some 1
Fissured spine with hydrocephalus Occurrence False Congenital Inferred relationship Some 4
HEC syndrome Occurrence True Congenital Inferred relationship Some 3
HEC syndrome Occurrence True Congenital Inferred relationship Some 2
HEC syndrome Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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