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255399007: Congenital (qualifier value)

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

Descriptions:

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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Kosaki overgrowth syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
X-linked congenital dyserythropoietic anemia with thrombocytopenia Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Multiple carboxylase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
X-linked intellectual disability with marfanoid habitus Occurrence True Congenital Inferred relationship Existential restriction modifier 1
X-linked intellectual developmental disorder Christianson type Occurrence True Congenital Inferred relationship Existential restriction modifier 1
X-linked neurodegenerative syndrome Bertini type Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Acyl-coenzyme A oxidase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Combined oxidative phosphorylation defect type 26 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Combined oxidative phosphorylation defect type 25 Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Combined oxidative phosphorylation defect type 23 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 4
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Occurrence False Congenital Inferred relationship Existential restriction modifier 5
Congenital generalized hypercontractile muscle stiffness syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Congenital generalized hypercontractile muscle stiffness syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Mulberry molar teeth Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Laminopathy with premature aging Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive spastic paraplegia type 78 Occurrence False Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive spastic paraplegia type 78 Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Intermediate epidermolysis bullosa simplex with cardiomyopathy Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Oral-facial-digital syndrome with short stature and brachymesophalangia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Oral-facial-digital syndrome with short stature and brachymesophalangia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Oral-facial-digital syndrome with short stature and brachymesophalangia Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Oral-facial-digital syndrome with short stature and brachymesophalangia Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Oral-facial-digital syndrome with short stature and brachymesophalangia Occurrence True Congenital Inferred relationship Existential restriction modifier 6
Kallman syndrome with heart disease Occurrence True Congenital Inferred relationship Existential restriction modifier 6
Metopic ridging, ptosis, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Metopic ridging, ptosis, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Severe combined immunodeficiency due to linker for activation of T cells deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Colobomatous macrophthalmia with microcornea syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Colobomatous macrophthalmia with microcornea syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Colobomatous macrophthalmia with microcornea syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Colobomatous macrophthalmia with microcornea syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 4
Familial patent arterial duct Occurrence True Congenital Inferred relationship Existential restriction modifier 1
NIMA related kinase 9 lethal skeletal dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
NIMA related kinase 9 lethal skeletal dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital hypothyroidism due to congenital anomaly of thyroid gland Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital hypothyroidism due to dual oxidase maturation factor 2 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital hypothyroidism due to peripheral resistance to thyroid hormone Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital hypothyroidism due to thyroglobulin mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital hypothyroidism due to thyroid peroxidase mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital hypothyroidism due to thyroid deiodinase mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Congenital hypothyroidism due to symporter mutation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Diffuse pulmonary lymphangiomatosis Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Lethal occipital encephalocele, skeletal dysplasia syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 6
Congenital deficiency of cochlear nerve Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Filamin A-related X-linked myxomatous valvular dysplasia Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Gabriele-de Vries syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Occurrence False Congenital Inferred relationship Existential restriction modifier 3
Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2 Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Glycogen storage disease due to lactate dehydrogenase deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mucopolysaccharidosis-like plus disease Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Mucopolysaccharidosis-like plus disease Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Mucopolysaccharidosis-like plus disease Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Stromme syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Witteveen Kolk syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Agenesis of scrotum Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Sugarman brachydactyly Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Sugarman brachydactyly Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Sugarman brachydactyly Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Solute carrier family 39 member 8 congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Coiled-coil domain containing 115 congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Isolated generalized anhidrosis with normal sweat glands Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Autosomal recessive spastic paraplegia type 74 Occurrence False Congenital Inferred relationship Existential restriction modifier 2
Autosomal recessive spastic paraplegia type 74 Occurrence False Congenital Inferred relationship Existential restriction modifier 3
Autosomal recessive spastic paraplegia type 74 Occurrence False Congenital Inferred relationship Existential restriction modifier 4
Microcephalic cortical malformations, short stature due to rotatin deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Microcephalic cortical malformations, short stature due to rotatin deficiency Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Congenital benign giant pigmented nevus of skin Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 3
Tubulinopathy-associated dysgyria Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Tubulinopathy-associated dysgyria Occurrence True Congenital Inferred relationship Existential restriction modifier 2
Tubulinopathy-associated dysgyria Occurrence True Congenital Inferred relationship Existential restriction modifier 3
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 1
Seizures, scoliosis, macrocephaly syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier 5

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