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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
Gomez Lopez Hernandez syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Gomez Lopez Hernandez syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Gomez Lopez Hernandez syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) Occurrence False Congenital Inferred relationship Some 8
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) Occurrence False Congenital Inferred relationship Some 9
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Intellectual disability, developmental delay, contracture syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Intellectual disability, developmental delay, contracture syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Intellectual disability, developmental delay, contracture syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Matthew Wood syndrome Occurrence True Congenital Inferred relationship Some 2
Matthew Wood syndrome Occurrence False Congenital Inferred relationship Some 3
Skeletal dysplasia with intellectual disability syndrome (disorder) Occurrence False Congenital Inferred relationship Some 2
DK phocomelia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Ganglioside GM3 synthase deficiency (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital keratoconus Occurrence True Congenital Inferred relationship Some 1
Congenital keratoconus posticus circumscriptus Occurrence True Congenital Inferred relationship Some 1
Sacral dysgenesis Occurrence True Congenital Inferred relationship Some 1
Deletion 5q35 Occurrence True Congenital Inferred relationship Some 2
Deletion 5q35 Occurrence True Congenital Inferred relationship Some 3
Early-onset X-linked optic atrophy (disorder) Occurrence True Congenital Inferred relationship Some 2
Ectodermal dysplasia with blindness syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Ectodermal dysplasia with blindness syndrome (disorder) Occurrence True Congenital Inferred relationship Some 5
Ectodermal dysplasia with blindness syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Ectodermal dysplasia with blindness syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Fuhrmann syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Fuhrmann syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Galloway Mowat syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Galloway Mowat syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Occurrence True Congenital Inferred relationship Some 7
Oro-facial digital syndrome type 10 (disorder) Occurrence True Congenital Inferred relationship Some 4
Oro-facial digital syndrome type 10 (disorder) Occurrence True Congenital Inferred relationship Some 5
Oro-facial digital syndrome type 10 (disorder) Occurrence False Congenital Inferred relationship Some 6
Oro-facial digital syndrome type 10 (disorder) Occurrence False Congenital Inferred relationship Some 7
Oro-facial digital syndrome type 5 (disorder) Occurrence True Congenital Inferred relationship Some 4
Oro-facial digital syndrome type 5 (disorder) Occurrence True Congenital Inferred relationship Some 5
Oro-facial digital syndrome type 5 (disorder) Occurrence False Congenital Inferred relationship Some 6
Oro-facial digital syndrome type 5 (disorder) Occurrence False Congenital Inferred relationship Some 7
Oro-facial digital syndrome type 8 (disorder) Occurrence True Congenital Inferred relationship Some 4
Oro-facial digital syndrome type 8 (disorder) Occurrence True Congenital Inferred relationship Some 5
Oro-facial digital syndrome type 8 (disorder) Occurrence False Congenital Inferred relationship Some 6
Oro-facial digital syndrome type 8 (disorder) Occurrence False Congenital Inferred relationship Some 7
Ossification anomaly with psychomotor developmental delay syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Ossification anomaly with psychomotor developmental delay syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder) Occurrence False Congenital Inferred relationship Some 8
Osteocraniostenosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
syndrom med osteopeni, myopi, dövhet, intellektuell funktionsnedsättning och medfödd ansiktsmissbildning Occurrence False Congenital Inferred relationship Some 5
syndrom med osteopeni, myopi, dövhet, intellektuell funktionsnedsättning och medfödd ansiktsmissbildning Occurrence False Congenital Inferred relationship Some 6
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Occurrence False Congenital Inferred relationship Some 4
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Occurrence True Congenital Inferred relationship Some 5
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Pacman dysplasia (disorder) Occurrence True Congenital Inferred relationship Some 1
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Severe X-linked intellectual disability Gustavson type (disorder) Occurrence True Congenital Inferred relationship Some 4
Severe X-linked intellectual disability Gustavson type (disorder) Occurrence False Congenital Inferred relationship Some 5
Severe X-linked intellectual disability Gustavson type (disorder) Occurrence False Congenital Inferred relationship Some 6
Perlman syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Perlman syndrome (disorder) Occurrence False Congenital Inferred relationship Some 3
Ackerman syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Ackerman syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Ackerman syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) Occurrence False Congenital Inferred relationship Some 7
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6
Agnathia, holoprosencephaly, situs inversus syndrome (disorder) Occurrence False Congenital Inferred relationship Some 2
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
syndrom med aurikulookulär anomali och läppspalt Occurrence False Congenital Inferred relationship Some 3
syndrom med aurikulookulär anomali och läppspalt Occurrence False Congenital Inferred relationship Some 4
syndrom med aurikulookulär anomali och läppspalt Occurrence False Congenital Inferred relationship Some 5
syndrom med autism och portvinsfläck i ansiktet Occurrence False Congenital Inferred relationship Some 1
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) Occurrence True Congenital Inferred relationship Some 5
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) Occurrence True Congenital Inferred relationship Some 6
Distal limb deficiency with micrognathia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Distal limb deficiency with micrognathia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 5
Distal limb deficiency with micrognathia syndrome (disorder) Occurrence False Congenital Inferred relationship Some 6

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