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
German syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
German syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
German syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	7
Dysmorphism, pectus carinatum, joint laxity syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	8
Spastic paraplegia with precocious puberty syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Partial trisomy of chromosome 1	Occurrence	True	Congenital	Inferred relationship	Some	1
Partial trisomy of short arm of chromosome 1 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Partial trisomy of short arm of chromosome 1 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Partial trisomy of chromosome 2 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Partial trisomy of chromosome 3	Occurrence	True	Congenital	Inferred relationship	Some	1
Partial trisomy of chromosome 4 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Partial trisomy of chromosome 5	Occurrence	True	Congenital	Inferred relationship	Some	1
Partial trisomy of long arm of chromosome 5	Occurrence	True	Congenital	Inferred relationship	Some	2
Partial trisomy of long arm of chromosome 5	Occurrence	True	Congenital	Inferred relationship	Some	3
Partial trisomy of chromosome 6	Occurrence	True	Congenital	Inferred relationship	Some	1
Partial trisomy of chromosome 7 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Partial trisomy of chromosome 8	Occurrence	True	Congenital	Inferred relationship	Some	1
Partial trisomy of chromosome 9 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Partial trisomy of chromosome 10 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Partial trisomy of chromosome 11 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Partial trisomy of chromosome 12	Occurrence	True	Congenital	Inferred relationship	Some	1
Partial trisomy of chromosome 13	Occurrence	True	Congenital	Inferred relationship	Some	1
Partial trisomy of chromosome 14 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Partial trisomy of chromosome 15 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Partial trisomy of chromosome 16	Occurrence	True	Congenital	Inferred relationship	Some	1
Partial trisomy of chromosome 17 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Partial trisomy of chromosome 18 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Partial trisomy of chromosome 19	Occurrence	True	Congenital	Inferred relationship	Some	1
Partial trisomy of short arm of chromosome 19 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Partial trisomy of short arm of chromosome 19 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Partial trisomy of chromosome 20 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Partial trisomy of chromosome 21	Occurrence	True	Congenital	Inferred relationship	Some	1
Partial trisomy of chromosome 22	Occurrence	True	Congenital	Inferred relationship	Some	1
Tetraploidy (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Complete monosomy of autosome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Deletion of part of chromosome 1 (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Uniparental disomy of maternal origin (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Uniparental disomy of paternal origin (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Dermatoleukodystrophy	Occurrence	True	Congenital	Inferred relationship	Some	3
Camptobrachydactyly (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Camptobrachydactyly (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Camptobrachydactyly (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Hemifacial hyperplasia strabismus syndrome	Occurrence	False	Congenital	Inferred relationship	Some	3
Hemifacial hyperplasia strabismus syndrome	Occurrence	False	Congenital	Inferred relationship	Some	4
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Occurrence	False	Congenital	Inferred relationship	Some	3
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Occurrence	False	Congenital	Inferred relationship	Some	4
Marfanoid habitus with autosomal recessive intellectual disability syndrome	Occurrence	False	Congenital	Inferred relationship	Some	3
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Occurrence	False	Congenital	Inferred relationship	Some	5
Myoclonus, cerebellar ataxia, deafness syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Myoclonus, cerebellar ataxia, deafness syndrome	Occurrence	True	Congenital	Inferred relationship	Some	5
Trigonocephaly, short stature, developmental delay syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Trigonocephaly, short stature, developmental delay syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	6
Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	4
Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	5
Deafness, vitiligo, achalasia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Deafness, vitiligo, achalasia syndrome	Occurrence	False	Congenital	Inferred relationship	Some	5
Banki syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Thyrocerebrorenal syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Thyrocerebrorenal syndrome	Occurrence	True	Congenital	Inferred relationship	Some	5
Thyrocerebrorenal syndrome	Occurrence	True	Congenital	Inferred relationship	Some	7
Platelet type pseudo-von Willebrand disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Occurrence	False	Congenital	Inferred relationship	Some	3
Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	7
Duplication of eyebrow and syndactyly syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Duplication of eyebrow and syndactyly syndrome	Occurrence	False	Congenital	Inferred relationship	Some	4
Duplication of eyebrow and syndactyly syndrome	Occurrence	False	Congenital	Inferred relationship	Some	5
Stimmler syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Stimmler syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Stimmler syndrome	Occurrence	False	Congenital	Inferred relationship	Some	5
Congenital disorder of glycosylation type 1r (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital disorder of glycosylation type 1n (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital disorder of glycosylation type 1p	Occurrence	True	Congenital	Inferred relationship	Some	1
Asexual dwarfism	Occurrence	True	Congenital	Inferred relationship	Some	1
Platelet dense granule deficiency	Occurrence	True	Congenital	Inferred relationship	Some	3
Autosomal recessive asexual dwarfism	Occurrence	True	Congenital	Inferred relationship	Some	1
Nonfamilial asexual dwarfism	Occurrence	True	Congenital	Inferred relationship	Some	1
Gray platelet syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
X-linked asexual dwarfism	Occurrence	True	Congenital	Inferred relationship	Some	1
Hemoglobin M disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Platelet storage pool defect	Occurrence	True	Congenital	Inferred relationship	Some	1
Mixed alpha granule and dense body deficiency	Occurrence	True	Congenital	Inferred relationship	Some	3
Dense body defect	Occurrence	True	Congenital	Inferred relationship	Some	3
White platelet syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Medich giant platelet syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Triphalangeal thumb and dislocation of patella syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Triphalangeal thumb and dislocation of patella syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Camptodactyly taurinuria syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	2
Hereditary anetoderma (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome	Occurrence	False	Congenital	Inferred relationship	Some	3
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome	Occurrence	False	Congenital	Inferred relationship	Some	4

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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)