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255399007: Congenital (qualifier value)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Entire term case insensitive SNOMED CT core module
380599019 Congenita en Synonym Active Entire term case insensitive SNOMED CT core module
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group
Pericardial and diaphragmatic defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Pericardial and diaphragmatic defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Pericardial and diaphragmatic defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cerebro-costo-mandibular syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cerebro-costo-mandibular syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Lowry MacLean syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Lowry MacLean syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Myotubular myopathy with type I atrophy Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Coronary orifice abnormally high Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital cataract with hypertrichosis and intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital cataract with hypertrichosis and intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital rectovestibular fistula Occurrence True Congenital Inferred relationship Existential restriction modifier 1
46,XX disorder of sex development with anorectal anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords at crest ventricular septum Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital pontocerebellar hypoplasia type 2 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Double eyebrow Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Incomplete ossification of centrum of cervical vertebra Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital rectocloacal fistula Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Severe autosomal recessive muscular dystrophy of childhood - North African type Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Congenital abnormality of left atrioventricular valve chordae tendinae in double inlet ventricle Occurrence True Congenital Inferred relationship Existential restriction modifier 1
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital anomalies of eyelid, lacrimal system and orbit Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Coxoauricular syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Coxoauricular syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital calculus of kidney Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Trigonocephaly, short stature, developmental delay syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Thoracolumbar spina bifida without hydrocephalus - closed Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital hypoplasia of nasal septum Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Intracardiac location of anomalous pulmonary venous connection to coronary sinus Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Venous-lymphatic malformation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Myelomeningocele co-occurrent with hydrocephalus Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Myelomeningocele co-occurrent with hydrocephalus Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Myelomeningocele co-occurrent with hydrocephalus Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Myelomeningocele co-occurrent with hydrocephalus Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Sclerosteosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Arachnodactyly and intellectual disability with facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Spondyloepimetaphyseal dysplasia matrilin-3 type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Amelogenesis imperfecta and gingival hyperplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Pulmonary venous confluence in direct proximity to left atrium Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Pyknodysostosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Early onset myopathy with fatal cardiomyopathy Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Incomplete ossification of talus Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Pericarditis secondary to Mulibrey nanism Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Thrombocythemia with distal limb defect Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Cervical rib Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Ectodermal dysplasia with tooth-sweating defect Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Ehlers-Danlos syndrome vascular-like type Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Ehlers-Danlos syndrome vascular-like type Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Radial polydactyly Wassel 3 Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Epileptic encephalopathy with global cerebral demyelination Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Uterus acollis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Intellectual disability with cataract and kyphosis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Intellectual disability with cataract and kyphosis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Hirschsprung disease with type D brachydactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Hirschsprung disease with type D brachydactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Hirschsprung disease with type D brachydactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Axillary freckling due to neurofibromatosis Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Axillary freckling due to neurofibromatosis Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Mondini defect Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Tel Hashomer camptodactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Tel Hashomer camptodactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Tel Hashomer camptodactyly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Amelogenesis imperfecta, hypoplastic type with microdontia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Trifid pelvis of kidney Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5
Esophageal atresia, stenosis and fistula Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Greenberg dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Thanatophoric dysplasia, type 1 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Metaphyseal chondrodysplasia, Schmid type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Deformity of digit of hand due to amniotic band Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Esophageal atresia with tracheoesophageal fistula Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Steroid dehydrogenase deficiency and dental anomaly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Craniotabes Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Terminal osseous dysplasia and pigmentary defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital absence of forearm and hand Occurrence False Congenital Inferred relationship Existential restriction modifier 3
Congenital absence of forearm and hand Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital absence of forearm and hand Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Tetraamelia with multiple malformation syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Bipartite ossification of centrum of cervical vertebra Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Short rib polydactyly syndrome type I Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Short rib polydactyly syndrome type I Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Short rib polydactyly syndrome type I Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Short rib polydactyly syndrome type I Occurrence False Congenital Inferred relationship Existential restriction modifier 4
Ruvalcaba syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Proximal femoral focal deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1

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