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255399007: Congenital (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Entire term case insensitive SNOMED CT core module
380599019 Congenita en Synonym Active Entire term case insensitive SNOMED CT core module
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

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

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