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
Ectodermal dysplasia with hair-nail defect	Occurrence	True	Congenital	Inferred relationship	Some	1
Spina bifida aperta	Occurrence	True	Congenital	Inferred relationship	Some	3
Congenital cystic adenomatoid malformation of lung	Occurrence	True	Congenital	Inferred relationship	Some	1
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Chondrodysplasia punctata, MT type	Occurrence	True	Congenital	Inferred relationship	Some	1
Cervical thyroid remnant	Occurrence	True	Congenital	Inferred relationship	Some	1
Macrocephaly, short stature, paraplegia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Macrocephaly, short stature, paraplegia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	6
Macrocephaly, short stature, paraplegia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Macrocephaly, short stature, paraplegia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Macrocephaly, short stature, paraplegia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Pretibial epidermolysis bullosa	Occurrence	True	Congenital	Inferred relationship	Some	1
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Weber's true diffuse phlebarteriectasis	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital deformity of foot and ankle	Occurrence	True	Congenital	Inferred relationship	Some	1
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Autosomal dominant hypophosphataemic bone disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital rectovesical fistula	Occurrence	True	Congenital	Inferred relationship	Some	1
Mitral leaflet dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Phocomelia Schinzel type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital wide symphysis pubis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Epidermolysis bullosa simplex with muscular dystrophy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Epidermolysis bullosa simplex with muscular dystrophy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital neuropathy with arthrogryposis multiplex congenita	Occurrence	False	Congenital	Inferred relationship	Some	1
Aniridia type 1	Occurrence	True	Congenital	Inferred relationship	Some	1
Hydrocephalus associated with congenital aqueduct stenosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Atresia of pulmonary trunk with absent right pulmonary artery (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Mullerian duct and limb anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Microdysgenesis	Occurrence	True	Congenital	Inferred relationship	Some	1
Oromandibular-limb hypogenesis spectrum	Occurrence	True	Congenital	Inferred relationship	Some	1
Oromandibular-limb hypogenesis spectrum	Occurrence	True	Congenital	Inferred relationship	Some	2
Hypertelorism with microtia and facial clefting syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Isolated hereditary congenital facial paralysis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Atresia of aqueduct of Sylvius	Occurrence	True	Congenital	Inferred relationship	Some	1
Bilateral deficient infundibula	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondyloocular syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Glanular hypospadias	Occurrence	False	Congenital	Inferred relationship	Some	2
Caudal regression syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Bilateral incomplete cleft palate with cleft lip	Occurrence	False	Congenital	Inferred relationship	Some	2
Bilateral incomplete cleft palate with cleft lip	Occurrence	False	Congenital	Inferred relationship	Some	1
Cystic hygroma (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Displacement of Wharton's duct	Occurrence	True	Congenital	Inferred relationship	Some	2
Displacement of Wharton's duct	Occurrence	True	Congenital	Inferred relationship	Some	1
Haddad syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Haddad syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Hypertrichosis and acromegaloid facial appearance syndrome	Occurrence	False	Congenital	Inferred relationship	Some	1
Hypertrichosis and acromegaloid facial appearance syndrome	Occurrence	False	Congenital	Inferred relationship	Some	2
14q22q23 microdeletion syndrome	Occurrence	False	Congenital	Inferred relationship	Some	5
Malformation of throat	Occurrence	False	Congenital	Inferred relationship	Some	1
Craniosynostosis syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Hirschsprung disease of rectosigmoid region (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hirschsprung disease of rectosigmoid region (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Phakomatosis spilorosea	Occurrence	True	Congenital	Inferred relationship	Some	1
Phakomatosis spilorosea	Occurrence	True	Congenital	Inferred relationship	Some	2
Right ventricular outflow tract obstruction	Occurrence	False	Congenital	Inferred relationship	Some	1
Flat birthmark	Occurrence	False	Congenital	Inferred relationship	Some	1
Vascular ring with left aortic arch and right arterial duct ligament arising from retroesophageal aortic diverticulum with aberrant right subclavian artery (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Ectopic gastric mucosa - multiple sites (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Complete perimaxillary faciosynostosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Ablepharon macrostomia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Lumbar spina bifida with hydrocephalus - open	Occurrence	True	Congenital	Inferred relationship	Some	4
Blepharocheilodontic syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Acropectororenal dysplasia	Occurrence	False	Congenital	Inferred relationship	Some	2
Acropectororenal dysplasia	Occurrence	False	Congenital	Inferred relationship	Some	1
Muscular ventricular septal defect in inlet septum	Occurrence	True	Congenital	Inferred relationship	Some	1
Diaphyseal medullary stenosis with bone malignancy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Craniolacunia	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital asymmetry of forehead (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Atelosteogenesis type 3 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Torg type osteolysis	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital stenosis of larynx, trachea and bronchus	Occurrence	True	Congenital	Inferred relationship	Some	1
Persistent tuberculum impar	Occurrence	True	Congenital	Inferred relationship	Some	1
Filippi syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Filippi syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Filippi syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Timothy syndrome type 2 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Central serous retinopathy with pit of optic disc	Occurrence	False	Congenital	Inferred relationship	Some	1
Global developmental delay, osteopenia, ectodermal defect syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Aplasia cutis congenita with epibulbar dermoid syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Osteogenesis imperfecta, type IV B	Occurrence	True	Congenital	Inferred relationship	Some	1
Anophthalmia plus syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital failure of eye elevation	Occurrence	True	Congenital	Inferred relationship	Some	1
Incomplete ossification of radius	Occurrence	True	Congenital	Inferred relationship	Some	1
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Deafness, enamel hypoplasia, nail defect syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Deafness, enamel hypoplasia, nail defect syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4

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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)