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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
Congenital chorioretinal coloboma of right eye (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital chorioretinal coloboma of left eye (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital chorioretinal coloboma of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 3
Congenital chorioretinal coloboma of bilateral eyes (disorder) Occurrence True Congenital Inferred relationship Some 4
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Ethylmalonic encephalopathy (disorder) Occurrence True Congenital Inferred relationship Some 1
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Occurrence False Congenital Inferred relationship Some 5
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Occurrence False Congenital Inferred relationship Some 6
Epidermolysis bullosa simplex with muscular dystrophy (disorder) Occurrence False Congenital Inferred relationship Some 7
Endocrine-cerebro-osteodysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Endocrine-cerebro-osteodysplasia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Endocrine-cerebro-osteodysplasia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Endocrine-cerebro-osteodysplasia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Isodicentric chromosome 15 syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Faciocardiorenal syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Faciocardiorenal syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Faciocardiorenal syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Fallot complex with intellectual disability and growth delay syndrome Occurrence False Congenital Inferred relationship Some 9
Fallot complex with intellectual disability and growth delay syndrome Occurrence False Congenital Inferred relationship Some 10
familjära multipla fibrofollikulom Occurrence False Congenital Inferred relationship Some 2
familjära multipla fibrofollikulom Occurrence False Congenital Inferred relationship Some 3
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Micromelia Occurrence True Congenital Inferred relationship Some 1
Kozlowski spondylometaphyseal dysplasia Occurrence False Congenital Inferred relationship Some 2
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Microlissencephaly micromelia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Microlissencephaly micromelia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Microlissencephaly micromelia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Pili torti onychodysplasia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Pili torti onychodysplasia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Pili torti onychodysplasia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Pili torti onychodysplasia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Ramos Arroyo syndrome (disorder) Occurrence False Congenital Inferred relationship Some 2
Aplasia cutis congenita with epibulbar dermoid syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Aplasia cutis congenita with epibulbar dermoid syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Thiamine-responsive encephalopathy (disorder) Occurrence True Congenital Inferred relationship Some 1
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Tangier disease (disorder) Occurrence True Congenital Inferred relationship Some 1
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Stern Lubinsky Durrie syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Stern Lubinsky Durrie syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Stern Lubinsky Durrie syndrome (disorder) Occurrence True Congenital Inferred relationship Some 5
Saethre-Chotzen syndrome Occurrence True Congenital Inferred relationship Some 1
Solitary multilocular renal cyst Occurrence True Congenital Inferred relationship Some 1
Medullary sponge kidney Occurrence True Congenital Inferred relationship Some 1
Medullary sponge kidney with nephrocalcinosis Occurrence True Congenital Inferred relationship Some 1
Medullary sponge kidney without nephrocalcinosis Occurrence True Congenital Inferred relationship Some 1
Fibrocystic kidney disease Occurrence True Congenital Inferred relationship Some 1
Simpson-Golabi-Behmel syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Bilateral medullary sponge kidney (disorder) Occurrence True Congenital Inferred relationship Some 1
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) Occurrence False Congenital Inferred relationship Some 3
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) Occurrence False Congenital Inferred relationship Some 4
Midline cleft of lower lip Occurrence False Congenital Inferred relationship Some 2
Midline cleft of lower lip Occurrence False Congenital Inferred relationship Some 3
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) Occurrence True Congenital Inferred relationship Some 3
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) Occurrence False Congenital Inferred relationship Some 4
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) Occurrence False Congenital Inferred relationship Some 5
Embryopathy caused by mycophenolate mofetil (disorder) Occurrence True Congenital Inferred relationship Some 1
Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Nasopalpebral lipoma coloboma syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Nasopalpebral lipoma coloboma syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Native American myopathy Occurrence True Congenital Inferred relationship Some 2
Native American myopathy Occurrence False Congenital Inferred relationship Some 3
X-linked spastic paraplegia type 2 (disorder) Occurrence False Congenital Inferred relationship Some 4
Simpson-Golabi-Behmels syndrom, typ 2 Occurrence False Congenital Inferred relationship Some 1
Postaxial polydactyly type A (disorder) Occurrence True Congenital Inferred relationship Some 1
Postaxial polydactyly type B (disorder) Occurrence True Congenital Inferred relationship Some 1
Nephrogenic syndrome of inappropriate antidiuresis (disorder) Occurrence True Congenital Inferred relationship Some 1
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Noonan syndrome-like disorder with loose anagen hair (disorder) Occurrence False Congenital Inferred relationship Some 3
Noonan syndrome-like disorder with loose anagen hair (disorder) Occurrence False Congenital Inferred relationship Some 4
Polydactyly of index finger (disorder) Occurrence True Congenital Inferred relationship Some 1
Polyvalvular heart disease syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Polyvalvular heart disease syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Pigmented paravenous retinochoroidal atrophy (disorder) Occurrence True Congenital Inferred relationship Some 2
Pigmented paravenous retinochoroidal atrophy (disorder) Occurrence True Congenital Inferred relationship Some 3
Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Pierre Robin sequence faciodigital anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2

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