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
Pseudohermaphroditism	Occurrence	True	Congenital	Inferred relationship	Some	1
Oto-onycho-peroneal syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Oto-onycho-peroneal syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Oto-onycho-peroneal syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Oto-onycho-peroneal syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Spina bifida with hydrocephalus - closed	Occurrence	True	Congenital	Inferred relationship	Some	1
Neurofibromatosis Noonan syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Neurofibromatosis Noonan syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Lung agenesis with heart defect and thumb anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Lung agenesis with heart defect and thumb anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital fibrosis of inferior rectus muscle (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Malaligned atrial septum	Occurrence	True	Congenital	Inferred relationship	Some	1
Ventricular septal defect with anterior malaligned outlet septum with overriding pulmonary valve (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Lenticonus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Incomplete ossification of hyoid bone	Occurrence	True	Congenital	Inferred relationship	Some	1
Short rib polydactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Enlarged parietal foramina (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Pseudovaginal perineoscrotal hypospadias	Occurrence	False	Congenital	Inferred relationship	Some	1
Scalp, ear, nipple syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Scalp, ear, nipple syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Scalp, ear, nipple syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Distal radioulnar synostosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Cardiospondylocarpofacial syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Salla disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Ebstein's anomaly with atrial septal defect	Occurrence	True	Congenital	Inferred relationship	Some	1
Midline cleft of lower lip	Occurrence	True	Congenital	Inferred relationship	Some	1
Persistent lanugo	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Median nasal dermoid fistula	Occurrence	True	Congenital	Inferred relationship	Some	1
Intrauterine amputation of lower limb (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Capillary fragility abnormality	Occurrence	True	Congenital	Inferred relationship	Some	1
Arthrogryposis multiplex congenita and whistling face syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Arthrogryposis multiplex congenita and whistling face syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Syphilitic saddle nose	Occurrence	True	Congenital	Inferred relationship	Some	1
Microhepatia	Occurrence	True	Congenital	Inferred relationship	Some	1
Posterior lentiglobus	Occurrence	True	Congenital	Inferred relationship	Some	1
Ichthyosis cheek eyebrow syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Earpit syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Atrioventricular septal defect with separate atrioventricular orifices (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hooded clitoris	Occurrence	True	Congenital	Inferred relationship	Some	1
Central polydactyly of fingers	Occurrence	True	Congenital	Inferred relationship	Some	1
Coloboma of eyelid	Occurrence	True	Congenital	Inferred relationship	Some	1
Chondrodysplasia punctata congenita	Occurrence	True	Congenital	Inferred relationship	Some	1
Capillary malformation-arteriovenous malformation syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Stickler syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital tracheocele	Occurrence	True	Congenital	Inferred relationship	Some	2
Fordyce spots of buccal mucosa (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
osteodysplasi	Occurrence	False	Congenital	Inferred relationship	Some	1
Congenital ichthyosis with hypotrichosis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Malattachment of atrial septum with posterior aspect of septum primum to left (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Sialic storage disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Manus vara	Occurrence	False	Congenital	Inferred relationship	Some	2
Lamellar ichthyosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypohidrosis-diabetes insipidus syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Atrioventricular septal defect with ventricular component and interchordal shunting under superior bridging leaflet (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
familjära multipla fibrofollikulom	Occurrence	False	Congenital	Inferred relationship	Some	1
Lethal hemolytic anemia and genital anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Atrioventricular septal defect with ventricular imbalance consisting of dominant left ventricle and hypoplastic right ventricle (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondylometaphyseal dysplasia Schmidt type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Camptodactyly	Occurrence	True	Congenital	Inferred relationship	Some	1
Hemifacial hyperplasia strabismus syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Hemifacial hyperplasia strabismus syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Odonto-onycho-dermal dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cerebrofacial dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital gastrointestinal-urinary tract fistula	Occurrence	True	Congenital	Inferred relationship	Some	1
Vertical alopecia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hyperplasia of pancreatic islet beta cell	Occurrence	True	Congenital	Inferred relationship	Some	1
Radial polydactyly Wassel 4	Occurrence	False	Congenital	Inferred relationship	Some	1
8q22.1 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
8q22.1 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Craniosynostosis fibular aplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital abnormality of left atrioventricular valve in double inlet ventricle (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital dislocation of knee with genu recurvatum	Occurrence	True	Congenital	Inferred relationship	Some	1
Pseudohypoparathyroidism type I B	Occurrence	False	Congenital	Inferred relationship	Some	1
megalencefalisyndrom med kapillär missbildning	Occurrence	False	Congenital	Inferred relationship	Some	2
Familial scaphocephaly syndrome McGillivray type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Localised junctional epidermolysis bullosa	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypospadias, female	Occurrence	True	Congenital	Inferred relationship	Some	1
Skeletal dysplasia with intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Coronary sinus defect in left atrium	Occurrence	True	Congenital	Inferred relationship	Some	1
Cyprus facial neuromusculoskeletal syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cyprus facial neuromusculoskeletal syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
hydroraki	Occurrence	False	Congenital	Inferred relationship	Some	1
Maleformatio ectodermalis generalisata of Bafverstedt (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Weissenbacher-Zweymuller syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Arteriovenous angioma	Occurrence	True	Congenital	Inferred relationship	Some	1
Constriction ring syndrome of lower limb with amputation	Occurrence	True	Congenital	Inferred relationship	Some	1
Multirooted tooth with convergent roots	Occurrence	False	Congenital	Inferred relationship	Some	1
sena sekundära abnormiteter i centrala nervsystemet	Occurrence	False	Congenital	Inferred relationship	Some	1
Pierson syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Crowding of anterior maxillary teeth (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
syndrom med paraplegi, brakydaktyli och konformad epifys	Occurrence	False	Congenital	Inferred relationship	Some	2
syndrom med paraplegi, brakydaktyli och konformad epifys	Occurrence	False	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
135131000052119	medfödd	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)