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255399007: Congenital (qualifier value)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

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
Distal monosomy 15q Occurrence True Congenital Inferred relationship Some 1
Distal trisomy 17q Occurrence True Congenital Inferred relationship Some 1
Supernumerary lumbar vertebra Occurrence False Congenital Inferred relationship Some
Distal trisomy 19q Occurrence True Congenital Inferred relationship Some 1
Distal trisomy 1p36 Occurrence True Congenital Inferred relationship Some 1
Distal trisomy 1p36 Occurrence True Congenital Inferred relationship Some 2
Supernumerary metatarsal bone Occurrence False Congenital Inferred relationship Some
Lethal infantile mitochondrial myopathy Occurrence True Congenital Inferred relationship Some 1
Supernumerary sacral vertebra Occurrence False Congenital Inferred relationship Some
Lowe Kohn Cohen syndrome Occurrence True Congenital Inferred relationship Some 2
Lowe Kohn Cohen syndrome Occurrence True Congenital Inferred relationship Some 3
Lowe Kohn Cohen syndrome Occurrence True Congenital Inferred relationship Some 1
Maternal uniparental disomy of chromosome 2 Occurrence True Congenital Inferred relationship Some 1
Supernumerary tarsal bone Occurrence False Congenital Inferred relationship Some
Congenital absence of innominate vein Occurrence True Congenital Inferred relationship Some 1
Maternal uniparental disomy of chromosome 6 Occurrence True Congenital Inferred relationship Some 1
Maternal uniparental disomy of chromosome 9 Occurrence True Congenital Inferred relationship Some 1
Supernumerary thoracic vertebra Occurrence False Congenital Inferred relationship Some
Maternal uniparental disomy of chromosome 4 Occurrence True Congenital Inferred relationship Some 1
Thoracic hemivertebra Occurrence False Congenital Inferred relationship Some
Thoracoschisis Occurrence False Congenital Inferred relationship Some
True generalised microdontia Occurrence False Congenital Inferred relationship Some
Unilateral acheiria Occurrence False Congenital Inferred relationship Some
Unilateral congenital absence of foot Occurrence False Congenital Inferred relationship Some
Unilateral cartilaginous centrum of cervical vertebra Occurrence False Congenital Inferred relationship Some
Unilateral cartilaginous centrum of lumbar vertebra Occurrence False Congenital Inferred relationship Some
Unilateral cartilaginous centrum of sacral vertebra Occurrence False Congenital Inferred relationship Some
Unilateral cartilaginous centrum of thoracic vertebra Occurrence False Congenital Inferred relationship Some
Distichiasis Occurrence False Congenital Inferred relationship Some
Hypertrophy of right kidney co-occurrent and due to congenital hypoplasia of left kidney Occurrence True Congenital Inferred relationship Some 1
Juvenile GM2 gangliosidosis Occurrence False Congenital Inferred relationship Some 3
Immunodeficiency due to ficolin 3 deficiency 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 Occurrence True Congenital Inferred relationship Some 1
Metabolic myopathy due to lactate transporter defect Occurrence True Congenital Inferred relationship Some 1
Monosomy 13q34 Occurrence True Congenital Inferred relationship Some 2
Monosomy 13q34 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 Occurrence True Congenital Inferred relationship Some 1
Paternal uniparental disomy of chromosome 7 Occurrence True Congenital Inferred relationship Some 1
Localised cortical dysplasia Occurrence True Congenital Inferred relationship Some 1
Isolated focal cortical dysplasia Occurrence True Congenital Inferred relationship Some 1
Cervical rib syndrome Occurrence False Congenital Inferred relationship Some
Anomaly of sex chromosome Occurrence False Congenital Inferred relationship Some
Congenital anomaly of joint Occurrence False Congenital Inferred relationship Some
Congenital absence of cranial vault Occurrence False Congenital Inferred relationship Some
Congenital claw toe Occurrence False Congenital Inferred relationship Some
Congenital perforation of nasal septum Occurrence False Congenital Inferred relationship Some
Congenital tracheomalacia Occurrence False Congenital Inferred relationship Some
Nijmegen breakage syndrome-like disorder Occurrence True Congenital Inferred relationship Some 2
Nijmegen breakage syndrome-like disorder Occurrence True Congenital Inferred relationship Some 1
Congenital bronchomalacia Occurrence False Congenital Inferred relationship Some
Multiple epiphyseal dysplasia with miniepiphyses Occurrence True Congenital Inferred relationship Some 1
Neuhauser anomaly Occurrence True Congenital Inferred relationship Some 1
Abnormal plantar creases Occurrence False Congenital Inferred relationship Some
Tetrasomy 5p syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of digestive tract Occurrence False Congenital Inferred relationship Some
Subaortic course of innominate vein Occurrence True Congenital Inferred relationship Some 1
Congenital arteriovenous malformation of GIT Occurrence False Congenital Inferred relationship Some
Multiple gastrointestinal atresias Occurrence False Congenital Inferred relationship Some
Congenital anomaly of jaw Occurrence False Congenital Inferred relationship Some
Congenital vesico-ureteric reflux Occurrence False Congenital Inferred relationship Some
Congenital degeneration of nervous system Occurrence False Congenital Inferred relationship Some
Congenital sacral meningocele Occurrence False Congenital Inferred relationship Some
Congenital sclerocornea Occurrence False Congenital Inferred relationship Some
Anterior lenticonus Occurrence False Congenital Inferred relationship Some
Anterior lentiglobus Occurrence False Congenital Inferred relationship Some
Posterior lenticonus Occurrence False Congenital Inferred relationship Some
Posterior lentiglobus Occurrence False Congenital Inferred relationship Some
Congenital pigmentation of lens Occurrence False Congenital Inferred relationship Some
Congenital anterior capsular pigmentation Occurrence False Congenital Inferred relationship Some
Congenital blindness Occurrence False Congenital Inferred relationship Some
Congenital macular corneal dystrophy Occurrence False Congenital Inferred relationship Some
Congenital conjunctival cyst Occurrence False Congenital Inferred relationship Some
Congenital anomaly of choroid Occurrence False Congenital Inferred relationship Some
Congenital hypoplasia of choroid Occurrence False Congenital Inferred relationship Some
Congenital hypopigmentation of choroid Occurrence False Congenital Inferred relationship Some
Congenital retinoschisis Occurrence False Congenital Inferred relationship Some
Retinal dysplasia Occurrence False Congenital Inferred relationship Some
Multifocal retinal dysplasia Occurrence False Congenital Inferred relationship Some
Geographic retinal dysplasia Occurrence False Congenital Inferred relationship Some
Diffuse retinal dysplasia Occurrence False Congenital Inferred relationship Some
Congenital myelin deficiency of the optic disc Occurrence False Congenital Inferred relationship Some
Hypoplasia of the optic nerve Occurrence False Congenital Inferred relationship Some
Isolated unilateral hemispheric cerebellar hypoplasia Occurrence True Congenital Inferred relationship Some 1
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 4
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 3
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 2
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 1
Persistent pupillary membranes Occurrence False Congenital Inferred relationship Some
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 Occurrence True Congenital Inferred relationship Some 2

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Reference Sets

Qualifier value foundation reference set

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