255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Fetal and/or neonatal period\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital	Is a	Periods of life	false	Inferred relationship	Some
Congenital	Is a	Fetal and/or neonatal period	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pericardial and diaphragmatic defect syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Pericardial and diaphragmatic defect syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Pericardial and diaphragmatic defect syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cerebro-costo-mandibular syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Cerebro-costo-mandibular syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Lowry MacLean syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Lowry MacLean syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Myotubular myopathy with type I atrophy	Occurrence	True	Congenital	Inferred relationship	Some	1
Coronary orifice abnormally high	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital rectovestibular fistula (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
46,XX disorder of sex development with anorectal anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords at crest ventricular septum (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital pontocerebellar hypoplasia type 2 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Double eyebrow	Occurrence	True	Congenital	Inferred relationship	Some	1
Incomplete ossification of centrum of cervical vertebra (disorder)	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 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)	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 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Coxoauricular syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Coxoauricular syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital calculus of kidney	Occurrence	True	Congenital	Inferred relationship	Some	1
Trigonocephaly, short stature, developmental delay syndrome (disorder)	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 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Venous-lymphatic malformation	Occurrence	True	Congenital	Inferred relationship	Some	1
Myelomeningocele co-occurrent with hydrocephalus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Myelomeningocele co-occurrent with hydrocephalus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Myelomeningocele co-occurrent with hydrocephalus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Myelomeningocele co-occurrent with hydrocephalus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Sclerosteosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Amelogenesis imperfecta and gingival hyperplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Pulmonary venous confluence in direct proximity to left atrium (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Pyknodysostosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Early onset myopathy with fatal cardiomyopathy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Incomplete ossification of talus	Occurrence	True	Congenital	Inferred relationship	Some	1
Pericarditis secondary to Mulibrey nanism	Occurrence	True	Congenital	Inferred relationship	Some	2
Thrombocythemia with distal limb defect (disorder)	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 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Uterus acollis	Occurrence	True	Congenital	Inferred relationship	Some	1
Intellectual disability with cataract and kyphosis syndrome	Occurrence	False	Congenital	Inferred relationship	Some	1
Intellectual disability with cataract and kyphosis syndrome	Occurrence	False	Congenital	Inferred relationship	Some	2
Hirschsprung disease with type D brachydactyly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Hirschsprung disease with type D brachydactyly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hirschsprung disease with type D brachydactyly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Axillary freckling due to neurofibromatosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Axillary freckling due to neurofibromatosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Mondini defect (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Tel Hashomer camptodactyly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Tel Hashomer camptodactyly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Tel Hashomer camptodactyly syndrome (disorder)	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 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Oesophageal atresia, stenosis and fistula	Occurrence	True	Congenital	Inferred relationship	Some	1
Greenberg dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Thanatophoric dysplasia, type 1 (disorder)	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 (disorder)	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 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Craniotabes	Occurrence	True	Congenital	Inferred relationship	Some	1
Terminal osseous dysplasia and pigmentary defect syndrome (disorder)	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 (disorder)	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 type I (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Short rib polydactyly syndrome type I (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Short rib polydactyly syndrome type I (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Short rib polydactyly syndrome type I (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Ruvalcaba syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Proximal femoral focal deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1

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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
710191000124118	At birth	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	US National Library of Medicine maintained module (core metadata concept)