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
Ichthyosis cheek eyebrow syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Ichthyosis cheek eyebrow syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Limb body wall complex (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Upper limb defect with eye and ear abnormalities syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Upper limb defect with eye and ear abnormalities syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Mullerian duct and limb anomalies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Mullerian duct and limb anomalies syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Deafness with cataract and skeletal anomaly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Deafness with cataract and skeletal anomaly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Oculocerebral hypopigmentation syndrome of Preus type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Oculocerebral hypopigmentation syndrome of Preus type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Odontoma dysphagia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Heide syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Heide syndrome	Occurrence	False	Congenital	Inferred relationship	Some	4
Heide syndrome	Occurrence	False	Congenital	Inferred relationship	Some	5
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Short stature with valvular heart disease and characteristic facies syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Pili torti with developmental delay and neurological abnormality syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Growth delay with hydrocephalus and lung hypoplasia syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondylocamptodactyly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal dominant spondylocostal dysostosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Autosomal dominant spondylocostal dysostosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Steinfeld syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Steinfeld syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Deafness with epiphyseal dysplasia and short stature syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Deafness with epiphyseal dysplasia and short stature syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
8p23.1 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
8p23.1 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
1q41q42 microdeletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
1q41q42 microdeletion syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital infection caused by Epstein-Barr virus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
17q21.31 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Potter sequence cleft lip and palate cardiopathy syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Potter sequence cleft lip and palate cardiopathy syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Familial hypospadias of penis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Familial hypospadias of penis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital alpha-2-antiplasmin deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Familial idiopathic dilatation of right atrium (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Nanophthalmia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Proteus like syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital infection caused by enterovirus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Multicentric osteolysis nodulosis arthropathy spectrum (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Multicentric osteolysis nodulosis arthropathy spectrum (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Multicentric osteolysis nodulosis arthropathy spectrum (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Syndromic recessive X-linked ichthyosis (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Trisomy 17p (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Trisomy 17p (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Biliary atresia with splenic malformation syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Biliary atresia with splenic malformation syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Trisomy 10p (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Trisomy 10p (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Trisomy 10p (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Partial chromosome Y deletion (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Microcephaly with deafness and intellectual disability syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Shprintzen Goldberg omphalocele syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	8
Shprintzen Goldberg omphalocele syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	10
Lowry Yong syndrome	Occurrence	False	Congenital	Inferred relationship	Some	9
Rubella retinopathy	Occurrence	False	Congenital	Inferred relationship	Some	2
Central serous retinopathy with pit of optic disc	Occurrence	False	Congenital	Inferred relationship	Some	3
Microcornea with glaucoma and absent frontal sinus syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Microcornea with glaucoma and absent frontal sinus syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Deafness with malformation of ear and facial palsy syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Nephronophthisis hepatic fibrosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Nephronophthisis hepatic fibrosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Familial digital arthropathy and brachydactyly syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Metaphyseal dysplasia Braun Tinschert type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Caroli disease (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Isolated congenital alacrima (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal dominant brachyolmia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Folinic acid responsive seizure syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital hypothyroidism due to transplacental passage of maternal thyroid stimulating hormone binding inhibitory antibody (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Idiopathic congenital hypothyroidism (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Mosaic trisomy 8 syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Syndromic hypoplasia of orbital border (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Syndromic hypoplasia of orbital border (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Koolen De Vries syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Koolen De Vries syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital plasminogen activator inhibitor deficiency type 1 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Punctate palmoplantar keratoderma type 1 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital bilateral internal tibial torsion	Occurrence	False	Congenital	Inferred relationship	Some	3
X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Congenital bilateral internal tibial torsion	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
135131000052119	medfödd	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)