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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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life false Inferred relationship Some
Congenital Is a Fetal and/or neonatal period true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Kosaki overgrowth syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) Occurrence True Congenital Inferred relationship Some 4
Multiple carboxylase deficiency Occurrence True Congenital Inferred relationship Some 1
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
X-linked intellectual disability with marfanoid habitus (disorder) Occurrence True Congenital Inferred relationship Some 1
Christianson syndrome Occurrence True Congenital Inferred relationship Some 1
X-linked neurodegenerative syndrome Bertini type (disorder) Occurrence True Congenital Inferred relationship Some 2
Acyl-CoA oxidase deficiency Occurrence True Congenital Inferred relationship Some 2
Combined oxidative phosphorylation defect type 26 Occurrence True Congenital Inferred relationship Some 1
Combined oxidative phosphorylation defect type 25 (disorder) Occurrence True Congenital Inferred relationship Some 2
Combined oxidative phosphorylation defect type 23 Occurrence True Congenital Inferred relationship Some 1
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Occurrence False Congenital Inferred relationship Some 4
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Occurrence False Congenital Inferred relationship Some 5
Congenital generalized hypercontractile muscle stiffness syndrome Occurrence True Congenital Inferred relationship Some 3
Congenital generalized hypercontractile muscle stiffness syndrome Occurrence True Congenital Inferred relationship Some 2
Mulberry molar teeth Occurrence True Congenital Inferred relationship Some 2
Laminopathy with premature aging (disorder) Occurrence True Congenital Inferred relationship Some 1
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome Occurrence True Congenital Inferred relationship Some 1
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome Occurrence True Congenital Inferred relationship Some 2
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 78 (disorder) Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 78 (disorder) Occurrence False Congenital Inferred relationship Some 2
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder) Occurrence True Congenital Inferred relationship Some 2
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Oral-facial-digital syndrome with short stature and brachymesophalangia Occurrence True Congenital Inferred relationship Some 1
Oral-facial-digital syndrome with short stature and brachymesophalangia Occurrence True Congenital Inferred relationship Some 2
Oral-facial-digital syndrome with short stature and brachymesophalangia Occurrence True Congenital Inferred relationship Some 3
Oral-facial-digital syndrome with short stature and brachymesophalangia Occurrence True Congenital Inferred relationship Some 4
Oral-facial-digital syndrome with short stature and brachymesophalangia Occurrence True Congenital Inferred relationship Some 6
Kallman syndrome with heart disease (disorder) Occurrence True Congenital Inferred relationship Some 6
Metopic ridging, ptosis, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 1
Metopic ridging, ptosis, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 2
Severe combined immunodeficiency due to linker for activation of T cells deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Colobomatous macrophthalmia with microcornea syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Colobomatous macrophthalmia with microcornea syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Colobomatous macrophthalmia with microcornea syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Colobomatous macrophthalmia with microcornea syndrome (disorder) Occurrence True Congenital Inferred relationship Some 4
Familial patent arterial duct Occurrence True Congenital Inferred relationship Some 1
NEK9-related lethal skeletal dysplasia Occurrence True Congenital Inferred relationship Some 1
NEK9-related lethal skeletal dysplasia Occurrence True Congenital Inferred relationship Some 2
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital hypothyroidism due to congenital anomaly of thyroid gland Occurrence True Congenital Inferred relationship Some 1
Congenital hypothyroidism due to dual oxidase maturation factor 2 (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypothyroidism due to peripheral resistance to thyroid hormone (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypothyroidism due to thyroglobulin mutation (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypothyroidism due to thyroid peroxidase mutation (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypothyroidism due to thyroid deiodinase mutation (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital hypothyroidism due to symporter mutation (disorder) Occurrence True Congenital Inferred relationship Some 1
Diffuse pulmonary lymphangiomatosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 6
Congenital deficiency of cochlear nerve (disorder) Occurrence True Congenital Inferred relationship Some 1
FLNA-related X-linked myxomatous valvular dysplasia Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Gabriele-de Vries syndrome Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Occurrence False Congenital Inferred relationship Some 3
Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2 Occurrence True Congenital Inferred relationship Some 1
Glycogen storage disease due to lactate dehydrogenase deficiency Occurrence True Congenital Inferred relationship Some 1
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency Occurrence True Congenital Inferred relationship Some 1
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome Occurrence True Congenital Inferred relationship Some 1
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Occurrence True Congenital Inferred relationship Some 1
Mucopolysaccharidosis-like plus disease Occurrence True Congenital Inferred relationship Some 1
Mucopolysaccharidosis-like plus disease Occurrence True Congenital Inferred relationship Some 2
Mucopolysaccharidosis-like plus disease Occurrence True Congenital Inferred relationship Some 3
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 2
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Stromme syndrome Occurrence True Congenital Inferred relationship Some 1
Witteveen Kolk syndrome Occurrence True Congenital Inferred relationship Some 1
Agenesis of scrotum (disorder) Occurrence True Congenital Inferred relationship Some 1
Sugarman brachydactyly (disorder) Occurrence True Congenital Inferred relationship Some 1
Sugarman brachydactyly (disorder) Occurrence True Congenital Inferred relationship Some 2
Sugarman brachydactyly (disorder) Occurrence True Congenital Inferred relationship Some 3
SLC39A8 congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Some 1
Coiled-coil domain containing 115 congenital disorder of glycosylation (disorder) Occurrence True Congenital Inferred relationship Some 1
Isolated generalized anhidrosis with normal sweat glands Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 74 Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 74 Occurrence False Congenital Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 74 Occurrence False Congenital Inferred relationship Some 4
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) Occurrence True Congenital Inferred relationship Some 1
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital benign giant pigmented nevus of skin (disorder) Occurrence True Congenital Inferred relationship Some 1
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Tubulinopathy-associated dysgyria (disorder) Occurrence True Congenital Inferred relationship Some 1
Tubulinopathy-associated dysgyria (disorder) Occurrence True Congenital Inferred relationship Some 2
Tubulinopathy-associated dysgyria (disorder) Occurrence True Congenital Inferred relationship Some 3
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Seizures, scoliosis, macrocephaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 5

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