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
Maternal uniparental disomy of chromosome 6 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 9	Occurrence	True	Congenital	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 4	Occurrence	True	Congenital	Inferred relationship	Some	1
Hypertrophy of right kidney co-occurrent and due to congenital hypoplasia of left kidney	Occurrence	True	Congenital	Inferred relationship	Some	1
Immunodeficiency due to ficolin 3 deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Isochromosomy Yp	Occurrence	True	Congenital	Inferred relationship	Some	1
Isolated cerebellar vermis hypoplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Cortical dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Cortical dysplasia with hemimegalencephaly	Occurrence	True	Congenital	Inferred relationship	Some	1
Paternal uniparental disomy of chromosome 21 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Metabolic myopathy due to lactate transporter defect	Occurrence	True	Congenital	Inferred relationship	Some	1
Monosomy 13q34 syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Monosomy 13q34 syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Multiple epiphyseal dysplasia due to collagen 9 anomaly	Occurrence	True	Congenital	Inferred relationship	Some	1
Paternal uniparental disomy of chromosome 1 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Paternal uniparental disomy of chromosome 7	Occurrence	True	Congenital	Inferred relationship	Some	1
Localized cortical dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Isolated focal cortical dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Nijmegen breakage syndrome-like disorder (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Nijmegen breakage syndrome-like disorder (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Multiple epiphyseal dysplasia with miniepiphyses	Occurrence	True	Congenital	Inferred relationship	Some	1
Neuhauser anomaly	Occurrence	True	Congenital	Inferred relationship	Some	1
Tetrasomy 5p syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Subaortic course of innominate vein	Occurrence	True	Congenital	Inferred relationship	Some	1
Isolated unilateral hemispheric cerebellar hypoplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Carney complex, trismus, pseudocamptodactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Carney complex, trismus, pseudocamptodactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Carney complex, trismus, pseudocamptodactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Trichoodontoonychial dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	2
Trichoodontoonychial dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Trichoodontoonychial dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	3
Trichoodontoonychial dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	4
Diencephalic mesencephalic junction dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Diencephalic mesencephalic junction dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Cono-spondylar dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Cono-spondylar dysplasia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive spastic paraplegia type 67 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Autosomal recessive spastic paraplegia type 67 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Trichodysplasia xeroderma syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Trichodysplasia xeroderma syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Combined immunodeficiency due to OX40 deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
2q23.1 microduplication syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Short stature due to growth hormone secretagogue receptor deficiency	Occurrence	False	Congenital	Inferred relationship	Some	1
X-linked non progressive cerebellar ataxia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Familial lambdoid synostosis	Occurrence	False	Congenital	Inferred relationship	Some	2
Familial lambdoid synostosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Severe lateral tibial bowing with short stature	Occurrence	True	Congenital	Inferred relationship	Some	1
Severe lateral tibial bowing with short stature	Occurrence	True	Congenital	Inferred relationship	Some	2
Epiphyseal dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia with multiple dislocations	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
X small rings	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked cleft palate and ankyloglossia	Occurrence	True	Congenital	Inferred relationship	Some	2
X-linked cleft palate and ankyloglossia	Occurrence	True	Congenital	Inferred relationship	Some	1
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder	Occurrence	True	Congenital	Inferred relationship	Some	1
Familial supernumerary nipple	Occurrence	True	Congenital	Inferred relationship	Some	1
X-linked distal spinal muscular atrophy type 3 (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	1
Radio-renal syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Radio-renal syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
1p31p32 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
1p31p32 microdeletion syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Hypomyelination neuropathy arthrogryposis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Hypomyelination neuropathy arthrogryposis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Hypomyelination neuropathy arthrogryposis syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital dislocation of right hip (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital dislocation of left hip (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital dislocation of right hip co-occurrent with congenital subluxation of left hip (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital dislocation of right hip co-occurrent with congenital subluxation of left hip (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital dislocation of left hip co-occurrent with congenital subluxation of right hip (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital dislocation of left hip co-occurrent with congenital subluxation of right hip (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital absence of left foot (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital absence of lower leg and foot (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital absence of lower leg and foot (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital absence of right foot	Occurrence	True	Congenital	Inferred relationship	Some	1
Multicentric carpotarsal osteolysis syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Dysplasia of lung	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital pes cavus of bilateral feet (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital pes cavus of bilateral feet (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital pes cavus of left foot (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Tetralogy of Fallot with pulmonary stenosis	Occurrence	True	Congenital	Inferred relationship	Some	4
Tetralogy of Fallot with pulmonary stenosis	Occurrence	True	Congenital	Inferred relationship	Some	3
Tetralogy of Fallot with absent pulmonary valve (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Tetralogy of Fallot with absent pulmonary valve (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Tetralogy of Fallot with absent pulmonary valve (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Tetralogy of Fallot with pulmonary atresia	Occurrence	True	Congenital	Inferred relationship	Some	3
Tetralogy of Fallot with pulmonary atresia	Occurrence	True	Congenital	Inferred relationship	Some	4
Congenital pes cavus	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital macrostomia of right side of mouth (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	6
Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Pulmonary valve agenesis, tetralogy of Fallot, absence of ductus arteriosus syndrome (disorder)	Occurrence	True	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)