255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\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	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hand-foot-genital syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Hand-foot-genital syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Pachydermoperiostosis - familial	Occurrence	True	Congenital	Inferred relationship	Some	1
Megacystis-megaureter syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Juxtaductal aortic coarctation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Vascular ring with left aortic arch and retroesophageal right descending aorta and right arterial duct arising from aortic diverticulum and aberrant right subclavian artery (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Vascular ring with left aortic arch and retroesophageal right descending aorta and right arterial duct arising from aortic diverticulum and aberrant right subclavian artery (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Epidermolysis bullosa simplex	Occurrence	True	Congenital	Inferred relationship	Some	1
balanisk hypospadi	Occurrence	False	Congenital	Inferred relationship	Some	1
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Congenital bilateral aplasia of vas deferens	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia Shohat type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Ulna metaphyseal dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Dysplasia epiphysealis hemimelica (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital coronary artery fistula to pulmonary artery (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Weill-Marchesani syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Acrocephaly	Occurrence	True	Congenital	Inferred relationship	Some	1
Hemimyelocele	Occurrence	True	Congenital	Inferred relationship	Some	2
Situs inversus viscerum	Occurrence	True	Congenital	Inferred relationship	Some	1
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Aortico-left ventricular tunnel with extracardiac aneurysm of aortic wall (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Occipital encephalocele	Occurrence	True	Congenital	Inferred relationship	Some	2
Universal mesentery	Occurrence	True	Congenital	Inferred relationship	Some	1
Bamforth Lazarus syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Weber-Cockayne syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections	Occurrence	True	Congenital	Inferred relationship	Some	1
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections	Occurrence	True	Congenital	Inferred relationship	Some	2
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
11p partial monosomy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Pulmonary trunk absent with absent left pulmonary artery (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Dysostosis multiplex	Occurrence	True	Congenital	Inferred relationship	Some	1
Transient bullous dermolysis of newborn (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Spina bifida without hydrocephalus - closed	Occurrence	True	Congenital	Inferred relationship	Some	2
Carney complex (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Carney complex (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital coronary artery fistula to right ventricle (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital coronary artery fistula to right ventricle (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Astley-Kendall dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Fallopian tube and broad ligament anomalies	Occurrence	True	Congenital	Inferred relationship	Some	1
Fallopian tube and broad ligament anomalies	Occurrence	True	Congenital	Inferred relationship	Some	2
Acropectoral syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Laminar heterotopia	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital pontocerebellar hypoplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Brachyolmia - Maroteaux type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Osteodysplastic primordial dwarfism	Occurrence	True	Congenital	Inferred relationship	Some	1
Ecchordosis physaliphora	Occurrence	False	Congenital	Inferred relationship	Some	2
Chondrodysplasia punctata, Conradi-Hünermann type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Dermo-odonto dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Sonoda syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital abnormality of thoracic aorta and pulmonary arteries	Occurrence	True	Congenital	Inferred relationship	Some	1
acefaloraki	Occurrence	False	Congenital	Inferred relationship	Some	1
Atrioventricular septal defect and common atrioventricular junction	Occurrence	True	Congenital	Inferred relationship	Some	1
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Port-wine stain in proteus syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Right superior vena cava connecting to coronary sinus and then to left sided atrium (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Right superior vena cava connecting to coronary sinus and then to left sided atrium (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Indeterminate atrial arrangement (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital elevation of scapula	Occurrence	True	Congenital	Inferred relationship	Some	1
Hyperphosphatasemia with bone disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Hyperphosphatasemia with bone disease	Occurrence	True	Congenital	Inferred relationship	Some	2
Brain calcification Rajab type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Left ventricular outflow tract abnormality	Occurrence	True	Congenital	Inferred relationship	Some	1
Pulmonary venous confluence in vertical orientation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Johanson-Blizzard syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital discoid meniscus	Occurrence	True	Congenital	Inferred relationship	Some	1
Craniometaphyseal dysplasia - severe type	Occurrence	False	Congenital	Inferred relationship	Some	1
Craniometaphyseal dysplasia - severe type	Occurrence	True	Congenital	Inferred relationship	Some	2
Atrial septal defect with endocardial cushion defect, partial type	Occurrence	True	Congenital	Inferred relationship	Some	1
Postductal aortic stenosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Compression of trachea and esophagus co-occurrent and due to congenital anomaly of aortic arch (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Compression of trachea and esophagus co-occurrent and due to congenital anomaly of aortic arch (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Compression of trachea and esophagus co-occurrent and due to congenital anomaly of aortic arch (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Syndromic hypoplasia of orbital border (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Fuhrmann syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Incomplete ossification of frontal bone	Occurrence	True	Congenital	Inferred relationship	Some	1
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Occurrence	False	Congenital	Inferred relationship	Some	2
Congenital corneal keloid (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Exstrophy of cloaca sequence (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Exstrophy of cloaca sequence (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Exstrophy of cloaca sequence (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Exstrophy of cloaca sequence (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Recessive dystrophic epidermolysis bullosa	Occurrence	True	Congenital	Inferred relationship	Some	1
Transposition of pulmonary veins	Occurrence	True	Congenital	Inferred relationship	Some	2
Transposition of pulmonary veins	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital penile torsion	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Occurrence	True	Congenital	Inferred relationship	Some	1
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Lipomeningocele	Occurrence	True	Congenital	Inferred relationship	Some	2
Parkes Weber syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Atrichia with papular lesions (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2

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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
135131000052119	medfödd	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)