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
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Mitral valve dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Lipodystrophy, intellectual disability, deafness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Coloboma of macula with brachydactyly type B syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
46,XX disorder of sex development with skeletal anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital short quadriceps	Occurrence	True	Congenital	Inferred relationship	Some	1
Incomplete ossification of sternebra	Occurrence	True	Congenital	Inferred relationship	Some	1
Left ventricular outflow tract obstruction due to anterolateral muscle band (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Central core disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital stenosis of vagina affecting pregnancy	Occurrence	True	Congenital	Inferred relationship	Some	1
Amyoplasia congenita disruptive sequence	Occurrence	False	Congenital	Inferred relationship	Some	1
Thoracic insufficiency syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Microphthalmia with brain atrophy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Campomelia Cumming type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Campomelia Cumming type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cleft lip retinopathy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Cleft lip retinopathy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Multiple epiphyseal dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Isotretinoin embryopathy-like syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Isotretinoin embryopathy-like syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Isotretinoin embryopathy-like syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Distichiasis	Occurrence	False	Congenital	Inferred relationship	Some	1
Capillary-venous malformation	Occurrence	True	Congenital	Inferred relationship	Some	1
Patent ductus arteriosus with right-to-left shunt	Occurrence	True	Congenital	Inferred relationship	Some	1
Vascular compression of esophagus by aberrant right subclavian artery arising from descending aorta	Occurrence	False	Congenital	Inferred relationship	Some	3
Syndactyly type 2 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital corneal opacity interfering with vision	Occurrence	True	Congenital	Inferred relationship	Some	1
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Double artery	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital asymmetry of jaw	Occurrence	True	Congenital	Inferred relationship	Some	1
Opitz-Frias syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Kniest-Stickler dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Supradiaphragmatic total anomalous pulmonary venous return	Occurrence	True	Congenital	Inferred relationship	Some	1
Patent vitelline duct (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Dento-oculocutaneous syndrome	Occurrence	False	Congenital	Inferred relationship	Some	1
Multiple dysplasia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Ehlers-Danlos syndrome progeroid type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Ehlers-Danlos syndrome progeroid type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Arteriovenous malformation of duodenum (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Polydactyly of fingers	Occurrence	True	Congenital	Inferred relationship	Some	1
Acephalocheiria	Occurrence	True	Congenital	Inferred relationship	Some	3
Acephalocheiria	Occurrence	True	Congenital	Inferred relationship	Some	2
Acephalocheiria	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital fissure of epiglottis	Occurrence	True	Congenital	Inferred relationship	Some	1
Absent ductus venosus with direct connection of umbilical vein to inferior vena cava (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Radial aplasia-thrombocytopenia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Anomalous pulmonary venous drainage to coronary sinus	Occurrence	True	Congenital	Inferred relationship	Some	2
Pulmonary hypoplasia associated with short gestation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Straddling mitral valve	Occurrence	True	Congenital	Inferred relationship	Some	1
Thoracic hydromeningocele	Occurrence	False	Congenital	Inferred relationship	Some	1
Thoracic hydromeningocele	Occurrence	False	Congenital	Inferred relationship	Some	2
Oligomeganephronic hypoplasia of kidney	Occurrence	True	Congenital	Inferred relationship	Some	2
Epstein's pearl of palate (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Microdactyly	Occurrence	True	Congenital	Inferred relationship	Some	1
Pyknoachondrogenesis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Pyknoachondrogenesis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Pyknoachondrogenesis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Ehlers-Danlos syndrome kyphoscoliotic type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Macropalpebral fissure	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anomaly of ear with impairment of hearing	Occurrence	True	Congenital	Inferred relationship	Some	1
Saldino-Mainzer dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	2
Cystic hygroma in fetus (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Adult GM1 gangliosidosis	Occurrence	False	Congenital	Inferred relationship	Some	1
Right ventricular outflow tract obstruction due to prolapsed arterial valve (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Oculootoradial syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cutis laxa, recessive, type II	Occurrence	True	Congenital	Inferred relationship	Some	1
Gillespie syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Spina bifida aperta of lumbar spine (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Spina bifida aperta of lumbar spine (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Symmetrical dyschromatosis of extremities	Occurrence	True	Congenital	Inferred relationship	Some	1
Camptobrachydactyly (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Camptobrachydactyly (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Camptobrachydactyly (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital abnormality of right atrioventricular valve papillary muscle in double inlet ventricle (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis - ventricular septal defect type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis - ventricular septal defect type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cervical spina bifida with hydrocephalus	Occurrence	True	Congenital	Inferred relationship	Some	2
Scypho-patellar dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Scypho-patellar dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Pericardial and diaphragmatic defect syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3

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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)