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255399007: Congenital (qualifier value)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Case insensitive SNOMED CT core
380599019 Congenita en Synonym Active Case insensitive SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Case insensitive SNOMED CT core

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
Orofaciodigital syndrome type 5 Occurrence False Congenital Inferred relationship Some 7
Orofaciodigital syndrome type 8 Occurrence True Congenital Inferred relationship Some 4
Orofaciodigital syndrome type 8 Occurrence True Congenital Inferred relationship Some 5
Orofaciodigital syndrome type 8 Occurrence False Congenital Inferred relationship Some 6
Orofaciodigital syndrome type 8 Occurrence False Congenital Inferred relationship Some 7
Ossification anomaly with psychomotor developmental delay syndrome Occurrence True Congenital Inferred relationship Some 3
Ossification anomaly with psychomotor developmental delay syndrome Occurrence False Congenital Inferred relationship Some 4
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Occurrence False Congenital Inferred relationship Some 7
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Occurrence False Congenital Inferred relationship Some 8
Osteocraniostenosis Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome Occurrence False Congenital Inferred relationship Some 5
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome Occurrence False Congenital Inferred relationship Some 6
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Occurrence False Congenital Inferred relationship Some 5
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Occurrence False Congenital Inferred relationship Some 6
Osteoporosis and oculocutaneous hypopigmentation syndrome Occurrence False Congenital Inferred relationship Some 4
Osteoporosis and oculocutaneous hypopigmentation syndrome Occurrence False Congenital Inferred relationship Some 5
Osteoporosis and oculocutaneous hypopigmentation syndrome Occurrence False Congenital Inferred relationship Some 6
Osteosclerosis, ichthyosis, premature ovarian failure syndrome Occurrence False Congenital Inferred relationship Some 4
Osteosclerosis, ichthyosis, premature ovarian failure syndrome Occurrence True Congenital Inferred relationship Some 5
Osteosclerosis, developmental delay, craniosynostosis syndrome Occurrence True Congenital Inferred relationship Some 2
Osteosclerosis, developmental delay, craniosynostosis syndrome Occurrence False Congenital Inferred relationship Some 3
Overgrowth, macrocephaly, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 2
Overgrowth, macrocephaly, facial dysmorphism syndrome Occurrence False Congenital Inferred relationship Some 3
Pacman dysplasia Occurrence True Congenital Inferred relationship Some 1
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome Occurrence True Congenital Inferred relationship Some 2
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome Occurrence False Congenital Inferred relationship Some 3
Severe X-linked intellectual disability Gustavson type Occurrence True Congenital Inferred relationship Some 4
Severe X-linked intellectual disability Gustavson type Occurrence False Congenital Inferred relationship Some 5
Severe X-linked intellectual disability Gustavson type Occurrence False Congenital Inferred relationship Some 6
Perlman syndrome Occurrence True Congenital Inferred relationship Some 2
Perlman syndrome Occurrence False Congenital Inferred relationship Some 3
Ackerman syndrome Occurrence True Congenital Inferred relationship Some 3
Ackerman syndrome Occurrence False Congenital Inferred relationship Some 4
Ackerman syndrome Occurrence False Congenital Inferred relationship Some 5
Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome Occurrence False Congenital Inferred relationship Some 5
Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome Occurrence False Congenital Inferred relationship Some 6
Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome Occurrence False Congenital Inferred relationship Some 7
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome Occurrence False Congenital Inferred relationship Some 4
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome Occurrence False Congenital Inferred relationship Some 5
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome Occurrence False Congenital Inferred relationship Some 6
Agnathia, holoprosencephaly, situs inversus syndrome Occurrence False Congenital Inferred relationship Some 2
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Occurrence True Congenital Inferred relationship Some 3
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Occurrence False Congenital Inferred relationship Some 4
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Occurrence False Congenital Inferred relationship Some 5
Auriculoocular anomaly and cleft lip syndrome Occurrence False Congenital Inferred relationship Some 3
Auriculoocular anomaly and cleft lip syndrome Occurrence False Congenital Inferred relationship Some 4
Auriculoocular anomaly and cleft lip syndrome Occurrence False Congenital Inferred relationship Some 5
Autism and facial port-wine stain syndrome Occurrence True Congenital Inferred relationship Some 1
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome Occurrence True Congenital Inferred relationship Some 5
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome Occurrence True Congenital Inferred relationship Some 6
Distal limb deficiency with micrognathia syndrome Occurrence False Congenital Inferred relationship Some 4
Distal limb deficiency with micrognathia syndrome Occurrence False Congenital Inferred relationship Some 5
Distal limb deficiency with micrognathia syndrome Occurrence False Congenital Inferred relationship Some 6
Distal trisomy 6p syndrome Occurrence True Congenital Inferred relationship Some 1
Double uterus, hemivagina, renal agenesis syndrome Occurrence True Congenital Inferred relationship Some 2
Double uterus, hemivagina, renal agenesis syndrome Occurrence False Congenital Inferred relationship Some 3
Duane anomaly, myopathy, scoliosis syndrome Occurrence False Congenital Inferred relationship Some 7
Dyschondrosteosis and nephritis syndrome Occurrence False Congenital Inferred relationship Some 3
Dyschondrosteosis and nephritis syndrome Occurrence False Congenital Inferred relationship Some 4
Dysspondyloenchondromatosis Occurrence True Congenital Inferred relationship Some 2
Dystrophic epidermolysis bullosa nails only Occurrence False Congenital Inferred relationship Some 4
Dystrophic epidermolysis bullosa nails only Occurrence False Congenital Inferred relationship Some 5
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Occurrence True Congenital Inferred relationship Some 2
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Occurrence True Congenital Inferred relationship Some 3
EDICT syndrome Occurrence True Congenital Inferred relationship Some 1
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome Occurrence True Congenital Inferred relationship Some 3
Meacham syndrome Occurrence True Congenital Inferred relationship Some 3
Meacham syndrome Occurrence False Congenital Inferred relationship Some 4
Meacham syndrome Occurrence False Congenital Inferred relationship Some 5
Macular coloboma, cleft palate, hallux valgus syndrome Occurrence False Congenital Inferred relationship Some 4
Macular coloboma, cleft palate, hallux valgus syndrome Occurrence False Congenital Inferred relationship Some 5
Macular coloboma, cleft palate, hallux valgus syndrome Occurrence False Congenital Inferred relationship Some 6
X-linked congenital dyserythropoietic anaemia with thrombocytopenia Occurrence False Congenital Inferred relationship Some 6
Thickened earlobe with conductive deafness syndrome Occurrence False Congenital Inferred relationship Some 5
Thickened earlobe with conductive deafness syndrome Occurrence False Congenital Inferred relationship Some 6
Toriello Carey syndrome Occurrence True Congenital Inferred relationship Some 1
Familial caudal dysgenesis Occurrence True Congenital Inferred relationship Some 2
Familial caudal dysgenesis Occurrence False Congenital Inferred relationship Some 3
Optic disc dysplasia Occurrence True Congenital Inferred relationship Some 1
LOC syndrome Occurrence False Congenital Inferred relationship Some 5
LOC syndrome Occurrence False Congenital Inferred relationship Some 6
LOC syndrome Occurrence False Congenital Inferred relationship Some 7
PAGOD syndrome Occurrence True Congenital Inferred relationship Some 1
Pai syndrome Occurrence False Congenital Inferred relationship Some 5
Pai syndrome Occurrence False Congenital Inferred relationship Some 6
Pai syndrome Occurrence False Congenital Inferred relationship Some 7
Pai syndrome Occurrence False Congenital Inferred relationship Some 8
Pai syndrome Occurrence False Congenital Inferred relationship Some 9
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Occurrence False Congenital Inferred relationship Some 4
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Occurrence False Congenital Inferred relationship Some 5
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Occurrence False Congenital Inferred relationship Some 6
Palmoplantar keratoderma with deafness syndrome Occurrence False Congenital Inferred relationship Some 6
Palmoplantar keratoderma with deafness syndrome Occurrence False Congenital Inferred relationship Some 7
Palmoplantar keratoderma Nagashima type Occurrence False Congenital Inferred relationship Some 3
Palmoplantar keratoderma Nagashima type Occurrence False Congenital Inferred relationship Some 4
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Occurrence False Congenital Inferred relationship Some 3
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Occurrence False Congenital Inferred relationship Some 4
Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome Occurrence False Congenital Inferred relationship Some 6
Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome Occurrence True Congenital Inferred relationship Some 7
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome Occurrence False Congenital Inferred relationship Some 5
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome Occurrence False Congenital Inferred relationship Some 6

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Reference Sets

Qualifier value foundation reference set

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