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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
46,XX disorder of sex development with anorectal anomalies syndrome Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords at crest ventricular septum Occurrence True Congenital Inferred relationship Some 1
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome Occurrence True Congenital Inferred relationship Some 2
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome Occurrence True Congenital Inferred relationship Some 3
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome Occurrence True Congenital Inferred relationship Some 1
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital pontocerebellar hypoplasia type 2 Occurrence True Congenital Inferred relationship Some 1
Double eyebrow Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of centrum of cervical vertebra Occurrence True Congenital Inferred relationship Some 1
Congenital rectocloacal fistula Occurrence True Congenital Inferred relationship Some 1
Severe autosomal recessive muscular dystrophy of childhood - North African type Occurrence False Congenital Inferred relationship Some 2
Congenital abnormality of left atrioventricular valve chordae tendinae in double inlet ventricle Occurrence True Congenital Inferred relationship Some 1
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital anomalies of eyelid, lacrimal system and orbit Occurrence True Congenital Inferred relationship Some 1
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 3
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 4
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 2
Coxoauricular syndrome Occurrence True Congenital Inferred relationship Some 1
Coxoauricular syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital calculus of kidney Occurrence True Congenital Inferred relationship Some 1
Trigonocephaly, short stature, developmental delay syndrome Occurrence True Congenital Inferred relationship Some 1
Thoracolumbar spina bifida without hydrocephalus - closed Occurrence True Congenital Inferred relationship Some 2
Congenital hypoplasia of nasal septum Occurrence False Congenital Inferred relationship Some 1
Intracardiac location of anomalous pulmonary venous connection to coronary sinus Occurrence True Congenital Inferred relationship Some 1
Venous-lymphatic malformation Occurrence True Congenital Inferred relationship Some 1
Myelomeningocoele and hydrocephalus Occurrence True Congenital Inferred relationship Some 4
Myelomeningocoele and hydrocephalus Occurrence True Congenital Inferred relationship Some 3
Myelomeningocoele and hydrocephalus Occurrence True Congenital Inferred relationship Some 2
Myelomeningocoele and hydrocephalus Occurrence True Congenital Inferred relationship Some 1
Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome Occurrence True Congenital Inferred relationship Some 1
Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome Occurrence True Congenital Inferred relationship Some 2
Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome Occurrence True Congenital Inferred relationship Some 3
Sclerosteosis Occurrence True Congenital Inferred relationship Some 1
Arachnodactyly and intellectual disability with facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia matrilin-3 type Occurrence True Congenital Inferred relationship Some 1
Amelogenesis imperfecta and gingival hyperplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Pulmonary venous confluence in direct proximity to left atrium Occurrence True Congenital Inferred relationship Some 1
Pyknodysostosis Occurrence True Congenital Inferred relationship Some 1
Early onset myopathy with fatal cardiomyopathy Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of talus Occurrence True Congenital Inferred relationship Some 1
Pericarditis co-occurrent and due to Mulibrey nanism Occurrence True Congenital Inferred relationship Some 2
Thrombocythaemia with distal limb defect Occurrence True Congenital Inferred relationship Some 2
Cervical rib Occurrence True Congenital Inferred relationship Some 1
Ectodermal dysplasia with tooth-sweating defect Occurrence True Congenital Inferred relationship Some 1
Ehlers-Danlos syndrome vascular-like type Occurrence False Congenital Inferred relationship Some 2
Ehlers-Danlos syndrome vascular-like type Occurrence False Congenital Inferred relationship Some 1
Radial polydactyly Wassel 3 Occurrence False Congenital Inferred relationship Some 1
Epileptic encephalopathy with global cerebral demyelination Occurrence True Congenital Inferred relationship Some 1
Uterus acollis Occurrence True Congenital Inferred relationship Some 1
Intellectual disability with cataract and kyphosis syndrome Occurrence True Congenital Inferred relationship Some 1
Intellectual disability with cataract and kyphosis syndrome Occurrence True Congenital Inferred relationship Some 2
Hirschsprung disease with type D brachydactyly syndrome Occurrence True Congenital Inferred relationship Some 3
Hirschsprung disease with type D brachydactyly syndrome Occurrence True Congenital Inferred relationship Some 1
Hirschsprung disease with type D brachydactyly syndrome Occurrence True Congenital Inferred relationship Some 2
Axillary freckling due to neurofibromatosis Occurrence True Congenital Inferred relationship Some 2
Axillary freckling due to neurofibromatosis Occurrence False Congenital Inferred relationship Some 1
Mondini defect Occurrence True Congenital Inferred relationship Some 1
Tel Hashomer camptodactyly syndrome Occurrence True Congenital Inferred relationship Some 2
Tel Hashomer camptodactyly syndrome Occurrence True Congenital Inferred relationship Some 3
Tel Hashomer camptodactyly syndrome Occurrence True Congenital Inferred relationship Some 1
Amelogenesis imperfecta, hypoplastic type with microdontia Occurrence True Congenital Inferred relationship Some 1
Trifid pelvis of kidney Occurrence True Congenital Inferred relationship Some 1
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome Occurrence True Congenital Inferred relationship Some 2
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome Occurrence True Congenital Inferred relationship Some 3
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome Occurrence True Congenital Inferred relationship Some 2
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome Occurrence True Congenital Inferred relationship Some 5
Oesophageal atresia, stenosis and fistula Occurrence True Congenital Inferred relationship Some 1
Greenberg dysplasia Occurrence True Congenital Inferred relationship Some 1
Thanatophoric dysplasia, type 1 Occurrence True Congenital Inferred relationship Some 1
Metaphyseal chondrodysplasia, Schmid type Occurrence True Congenital Inferred relationship Some 1
Deformity of digit of hand due to amniotic band Occurrence True Congenital Inferred relationship Some 1
Oesophageal atresia with tracheo-oesophageal fistula Occurrence True Congenital Inferred relationship Some 2
Steroid dehydrogenase deficiency and dental anomaly syndrome Occurrence True Congenital Inferred relationship Some 1
Craniotabes Occurrence True Congenital Inferred relationship Some 1
Terminal osseous dysplasia and pigmentary defect syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital absence of forearm and hand Occurrence False Congenital Inferred relationship Some 3
Congenital absence of forearm and hand Occurrence True Congenital Inferred relationship Some 2
Congenital absence of forearm and hand Occurrence True Congenital Inferred relationship Some 1
Tetraamelia with multiple malformation syndrome Occurrence True Congenital Inferred relationship Some 1
Bipartite ossification of centrum of cervical vertebra Occurrence True Congenital Inferred relationship Some 1
Short rib polydactyly syndrome Saldino Noonan type Occurrence True Congenital Inferred relationship Some 3
Short rib polydactyly syndrome Saldino Noonan type Occurrence True Congenital Inferred relationship Some 2
Short rib polydactyly syndrome Saldino Noonan type Occurrence True Congenital Inferred relationship Some 1
Short rib polydactyly syndrome Saldino Noonan type Occurrence False Congenital Inferred relationship Some 4
Ruvalcaba syndrome Occurrence True Congenital Inferred relationship Some 1
Proximal femoral focal deficiency Occurrence True Congenital Inferred relationship Some 1
Caudal appendage deafness syndrome Occurrence True Congenital Inferred relationship Some 3
Caudal appendage deafness syndrome Occurrence True Congenital Inferred relationship Some 2
Caudal appendage deafness syndrome Occurrence True Congenital Inferred relationship Some 1
Common arterial trunk with aortic dominance Occurrence True Congenital Inferred relationship Some 1
Brachydactyly and arterial hypertension syndrome Occurrence True Congenital Inferred relationship Some 1
Triplication of appendix Occurrence True Congenital Inferred relationship Some 1
Dyschondrosteosis and nephritis syndrome Occurrence True Congenital Inferred relationship Some 1
Dyschondrosteosis and nephritis syndrome Occurrence True Congenital Inferred relationship Some 2
Manus extensa Occurrence False Congenital Inferred relationship Some 2
RHYNS syndrome Occurrence True Congenital Inferred relationship Some 2
RHYNS syndrome Occurrence True Congenital Inferred relationship Some 1
RHYNS syndrome Occurrence True Congenital Inferred relationship Some 3

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Reference Sets

Qualifier value foundation reference set

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