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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
Lipomyelomeningocele Occurrence False Congenital Inferred relationship Some 3
Lipomyelomeningocele Occurrence False Congenital Inferred relationship Some 6
Lipomyelomeningocele Occurrence False Congenital Inferred relationship Some 5
Lipomyelomeningocele Occurrence True Congenital Inferred relationship Some 2
Lumbar meningomyelocele Occurrence True Congenital Inferred relationship Some 5
Lumbar meningomyelocele Occurrence True Congenital Inferred relationship Some 1
Ankyloblepharon filiforme adnatum with cleft palate syndrome Occurrence True Congenital Inferred relationship Some 1
Ankyloblepharon filiforme adnatum with cleft palate syndrome Occurrence True Congenital Inferred relationship Some 2
hydromeningomyelocele Occurrence False Congenital Inferred relationship Some 4
hydromeningomyelocele Occurrence False Congenital Inferred relationship Some 1
hydromeningomyelocele Occurrence False Congenital Inferred relationship Some 6
hydromeningomyelocele Occurrence False Congenital Inferred relationship Some 2
Congenital muscular dystrophy with cerebellar involvement Occurrence True Congenital Inferred relationship Some 1
Congenital muscular dystrophy with cerebellar involvement Occurrence True Congenital Inferred relationship Some 2
Meningomyelocele (disorder) Occurrence True Congenital Inferred relationship Some 4
Meningomyelocele (disorder) Occurrence True Congenital Inferred relationship Some 5
Meningomyelocele (disorder) Occurrence True Congenital Inferred relationship Some 3
Meningomyelocele (disorder) Occurrence True Congenital Inferred relationship Some 1
Meningomyelocele (disorder) Occurrence False Congenital Inferred relationship Some 2
High lumbar myelomeningocele Occurrence False Congenital Inferred relationship Some 4
High lumbar myelomeningocele Occurrence True Congenital Inferred relationship Some 5
High lumbar myelomeningocele Occurrence True Congenital Inferred relationship Some 3
High lumbar myelomeningocele Occurrence True Congenital Inferred relationship Some 2
Thoracic meningomyelocele Occurrence True Congenital Inferred relationship Some 5
Thoracic meningomyelocele Occurrence True Congenital Inferred relationship Some 1
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Low lumbar myelomeningocele Occurrence False Congenital Inferred relationship Some 4
Low lumbar myelomeningocele Occurrence True Congenital Inferred relationship Some 5
Low lumbar myelomeningocele Occurrence True Congenital Inferred relationship Some 3
Low lumbar myelomeningocele Occurrence True Congenital Inferred relationship Some 2
Congenital hypothyroidism due to maternal intake of antithyroid drug Occurrence True Congenital Inferred relationship Some 1
Myelomeningocele without hydrocephalus (disorder) Occurrence True Congenital Inferred relationship Some 4
Myelomeningocele without hydrocephalus (disorder) Occurrence True Congenital Inferred relationship Some 2
Myelomeningocele without hydrocephalus (disorder) Occurrence False Congenital Inferred relationship Some 5
Myelomeningocele without hydrocephalus (disorder) Occurrence True Congenital Inferred relationship Some 1
Myelomeningocele without hydrocephalus (disorder) Occurrence True Congenital Inferred relationship Some 3
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Occurrence False Congenital Inferred relationship Some 2
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Occurrence False Congenital Inferred relationship Some 1
Spina bifida aperta Occurrence True Congenital Inferred relationship Some 1
Congenital muscular dystrophy with intellectual disability Occurrence True Congenital Inferred relationship Some 1
Congenital muscular dystrophy with intellectual disability Occurrence True Congenital Inferred relationship Some 2
Myelomeningocele co-occurrent with hydrocephalus (disorder) Occurrence True Congenital Inferred relationship Some 5
Congenital muscular dystrophy without intellectual disability (disorder) Occurrence True Congenital Inferred relationship Some 1
Cervical meningomyelocele Occurrence True Congenital Inferred relationship Some 3
Cervical meningomyelocele Occurrence True Congenital Inferred relationship Some 5
Reunion-Indiana Amish type muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Manifesting female carrier of X-linked muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Emery-Dreifuss muscular dystrophy Occurrence False Congenital Inferred relationship Some 1
Autosomal dominant muscular dystrophy not predominantly limb girdle Occurrence True Congenital Inferred relationship Some 1
X-linked limb girdle muscular dystrophy with normal dystrophin Occurrence True Congenital Inferred relationship Some 1
Becker muscular dystrophy (disorder) Occurrence True Congenital Inferred relationship Some 1
Benign scapuloperoneal muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Congenital muscular hypertrophy-cerebral syndrome Occurrence True Congenital Inferred relationship Some 1
Jis muskeldystrofi Occurrence False Congenital Inferred relationship Some 1
Fukuyama congenital muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Hereditary myopathy limited to females Occurrence True Congenital Inferred relationship Some 1
Facioscapulohumeral muscular dystrophy (disorder) Occurrence True Congenital Inferred relationship Some 1
Merosin deficient congenital muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of body of uterus Occurrence True Congenital Inferred relationship Some 1
Aplasia of body of uterus Occurrence True Congenital Inferred relationship Some 1
X-linked muscular dystrophy not predominantly limb girdle Occurrence True Congenital Inferred relationship Some 1
X-linked muscular dystrophy with limb girdle distribution Occurrence True Congenital Inferred relationship Some 1
Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection Occurrence True Congenital Inferred relationship Some 1
benign skapuloperoneal muskeldystrofi med kardiomyopati Occurrence False Congenital Inferred relationship Some 1
Hutterite type of muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
X-linked muscular dystrophy with abnormal dystrophin Occurrence True Congenital Inferred relationship Some 1
Scapulohumeral muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive muscular dystrophy not predominantly limb girdle Occurrence True Congenital Inferred relationship Some 1
Congenital hereditary muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Intermediate X-linked muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Hereditary isolated aplastic anemia Occurrence True Congenital Inferred relationship Some 1
Hereditary persistence of fetal hemoglobin with sickle cell disease syndrome Occurrence True Congenital Inferred relationship Some 1
McCune Albright syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
osteomesopyknos Occurrence False Congenital Inferred relationship Some 3
Osteosclerosis Occurrence True Congenital Inferred relationship Some 1
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) Occurrence True Congenital Inferred relationship Some 3
Female pseudohermaphroditism Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive cutis laxa type 2B Occurrence True Congenital Inferred relationship Some 3
Encephalocele Occurrence True Congenital Inferred relationship Some 1
lokaliserad atrofi av bukväggshud Occurrence False Congenital Inferred relationship Some 2
Nasal encephalocele Occurrence True Congenital Inferred relationship Some 1
Nasal encephalocele Occurrence False Congenital Inferred relationship Some 2
hydromyelocele Occurrence False Congenital Inferred relationship Some 1
Hydromyelia Occurrence True Congenital Inferred relationship Some 1
Congenital tracheobronchomegaly Occurrence True Congenital Inferred relationship Some 2
Congenital tracheobronchomegaly Occurrence True Congenital Inferred relationship Some 1
Microcystic renal disease Occurrence True Congenital Inferred relationship Some 1
hydromeningomyelocele Occurrence False Congenital Inferred relationship Some 3
Congenital honeycomb lung Occurrence True Congenital Inferred relationship Some 1
Congenital cystic lung Occurrence True Congenital Inferred relationship Some 1
Congenital spastic foot Occurrence True Congenital Inferred relationship Some 1
Congenital spastic foot Occurrence True Congenital Inferred relationship Some 2
Congenital deaf mutism Occurrence True Congenital Inferred relationship Some 1
Complete cleft of hard palate Occurrence True Congenital Inferred relationship Some 1
Bilateral incomplete cleft lip and alveolus Occurrence True Congenital Inferred relationship Some 3

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