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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
Hypertelorism with microtia and facial clefting syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Karsch Neugebauer syndrome Occurrence True Congenital Inferred relationship Some 1
Karsch Neugebauer syndrome Occurrence True Congenital Inferred relationship Some 2
Okamoto syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
syndrom med aurikulookulär anomali och läppspalt Occurrence False Congenital Inferred relationship Some 1
Bamforth Lazarus syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Macular coloboma, cleft palate, hallux valgus syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Cleft hard and soft palate with cleft lip Occurrence True Congenital Inferred relationship Some 2
Cleft of hard palate and cleft lip (disorder) Occurrence True Congenital Inferred relationship Some 2
Cleft palate and bilateral cleft lip (disorder) Occurrence True Congenital Inferred relationship Some 2
Cleft of soft palate and cleft lip (disorder) Occurrence True Congenital Inferred relationship Some 2
Cheilognathoprosoposchisis Occurrence False Congenital Inferred relationship Some 5
Cleft mandible Occurrence False Congenital Inferred relationship Some 2
Lowry Yong syndrome Occurrence True Congenital Inferred relationship Some 1
Splenogonadal fusion Occurrence False Congenital Inferred relationship Some 4
Lethal omphalocele with cleft palate syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Weaver Williams syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Weaver Williams syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Epileptic encephalopathy with global cerebral demyelination (disorder) Occurrence False Congenital Inferred relationship Some 2
Digestive duplication cyst of tongue (disorder) Occurrence True Congenital Inferred relationship Some 1
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Occurrence False Congenital Inferred relationship Some 8
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Occurrence False Congenital Inferred relationship Some 9
3q13 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
3q13 microdeletion syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
4p16.3 microduplication syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
7q11.23 microduplication syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Familial isolated congenital asplenia (disorder) Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Hemifacial microsomia with radial defect syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Hemifacial microsomia with radial defect syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Ring chromosome 13 syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 8
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 9
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 10
X-linked intellectual disability Nascimento type (disorder) Occurrence True Congenital Inferred relationship Some 1
Chromosome Xp22.3 microdeletion syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Chromosome Xp22.3 microdeletion syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Short stature locking fingers syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive amelia (disorder) Occurrence True Congenital Inferred relationship Some 2
Autosomal recessive amelia (disorder) Occurrence True Congenital Inferred relationship Some 3
Cleft of soft palate and cleft lip (disorder) Occurrence False Congenital Inferred relationship Some 6
Pure mitochondrial myopathy (disorder) Occurrence True Congenital Inferred relationship Some 1
Cleft lip retinopathy syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Cleft lip retinopathy syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Cleft lip retinopathy syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Coxoauricular syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Coxoauricular syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Bone dysplasia lethal Holmgren type (disorder) Occurrence False Congenital Inferred relationship Some 2
Craniosynostosis fibular aplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Craniosynostosis fibular aplasia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Carbohydrate deficient glycoprotein syndrome type 2k (disorder) Occurrence True Congenital Inferred relationship Some 1
Cleft palate and bilateral cleft lip (disorder) Occurrence True Congenital Inferred relationship Some 1
Cleft of hard palate (disorder) Occurrence False Congenital Inferred relationship Some 4
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder) Occurrence True Congenital Inferred relationship Some 5
Distal monosomy 17q (disorder) Occurrence True Congenital Inferred relationship Some 2
Distal monosomy 17q (disorder) Occurrence False Congenital Inferred relationship Some 3
Cyprus facial neuromusculoskeletal syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Cyprus facial neuromusculoskeletal syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Cyprus facial neuromusculoskeletal syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Marfanoid syndrome De Silva type (disorder) Occurrence False Congenital Inferred relationship Some 3
Melhem Fahl syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Cleft of hard palate and cleft lip (disorder) Occurrence True Congenital Inferred relationship Some 1
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Occurrence False Congenital Inferred relationship Some 8
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Occurrence False Congenital Inferred relationship Some 8
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Occurrence False Congenital Inferred relationship Some 9
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Occurrence False Congenital Inferred relationship Some 10
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Occurrence False Congenital Inferred relationship Some 11
Aplasia of trochlea of humerus (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 18 (disorder) Occurrence False Congenital Inferred relationship Some
Autosomal recessive spastic paraplegia type 25 (disorder) Occurrence False Congenital Inferred relationship Some
Congenital J shaped sella turcica (disorder) Occurrence True Congenital Inferred relationship Some 1
Occipitalization of atlas (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital wide symphysis pubis (disorder) Occurrence False Congenital Inferred relationship Some 2
Congenital wide symphysis pubis (disorder) Occurrence False Congenital Inferred relationship Some 3
Congenital club finger (disorder) Occurrence False Congenital Inferred relationship Some 2
Congenital club finger (disorder) Occurrence False Congenital Inferred relationship Some 3
splenomegali samtidig med och orsakad av inlagringssjukdom Occurrence False Congenital Inferred relationship Some 1

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