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255399007: Congenital (qualifier value)


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

Descriptions:

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)


0 descendants.

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
familjär lambdoideasynostos Occurrence False Congenital Inferred relationship Some 2
familjär lambdoideasynostos Occurrence False 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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