255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\Congenital

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

Descriptions:

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
Uranostaphyloschisis with cleft lip (disorder)	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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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)