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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
Autosomal recessive spastic paraplegia type 76 Occurrence False Congenital Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 76 Occurrence False Congenital Inferred relationship Some 3
SIX2-related frontonasal dysplasia Occurrence True Congenital Inferred relationship Some 1
SIX2-related frontonasal dysplasia Occurrence True Congenital Inferred relationship Some 2
Camptodactyly syndrome Guadalajara type 3 Occurrence True Congenital Inferred relationship Some 1
Camptodactyly syndrome Guadalajara type 3 Occurrence True Congenital Inferred relationship Some 2
Camptodactyly syndrome Guadalajara type 3 Occurrence True Congenital Inferred relationship Some 3
Split-foot malformation, mesoaxial polydactyly syndrome Occurrence True Congenital Inferred relationship Some 1
Split-foot malformation, mesoaxial polydactyly syndrome Occurrence True Congenital Inferred relationship Some 2
Split-foot malformation, mesoaxial polydactyly syndrome Occurrence True Congenital Inferred relationship Some 3
Split-foot malformation, mesoaxial polydactyly syndrome Occurrence True Congenital Inferred relationship Some 4
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome Occurrence True Congenital Inferred relationship Some 1
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome Occurrence True Congenital Inferred relationship Some 2
Fried syndrome Occurrence True Congenital Inferred relationship Some 2
Incontinentia pigmenti syndrome Occurrence True Congenital Inferred relationship Some 3
Incontinentia pigmenti syndrome Occurrence True Congenital Inferred relationship Some 4
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Occurrence True Congenital Inferred relationship Some 1
Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome Occurrence True Congenital Inferred relationship Some 1
Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome Occurrence True Congenital Inferred relationship Some 1
Prenatal-onset spinal muscular atrophy with congenital bone fractures Occurrence True Congenital Inferred relationship Some 1
Prenatal-onset spinal muscular atrophy with congenital bone fractures Occurrence True Congenital Inferred relationship Some 2
Prenatal-onset spinal muscular atrophy with congenital bone fractures Occurrence True Congenital Inferred relationship Some 3
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Occurrence True Congenital Inferred relationship Some 2
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Occurrence True Congenital Inferred relationship Some 1
POGLUT1-related limb girdle muscular dystrophy R21 Occurrence True Congenital Inferred relationship Some 2
Lethal hydranencephaly, diaphragmatic hernia syndrome Occurrence True Congenital Inferred relationship Some 1
Lethal hydranencephaly, diaphragmatic hernia syndrome Occurrence True Congenital Inferred relationship Some 2
Lethal hydranencephaly, diaphragmatic hernia syndrome Occurrence True Congenital Inferred relationship Some 3
Lethal hydranencephaly, diaphragmatic hernia syndrome Occurrence True Congenital Inferred relationship Some 4
Acquired subpulmonary stenosis associated with functionally univentricular heart Occurrence True Congenital Inferred relationship Some 2
Subpulmonary stenosis associated with functionally univentricular heart as complication of procedure Occurrence True Congenital Inferred relationship Some 3
Acquired subpulmonary stenosis due to restrictive ventricular defect associated with functionally univentricular heart Occurrence True Congenital Inferred relationship Some 3
Subaortic stenosis associated with functionally univentricular heart as complication of procedure Occurrence True Congenital Inferred relationship Some 1
Acquired subaortic stenosis associated with functionally univentricular heart Occurrence True Congenital Inferred relationship Some 2
Acquired subaortic stenosis due to restrictive ventricular septal defect associated with functionally univentricular heart Occurrence True Congenital Inferred relationship Some 3
Allan-Herndon-Dudley syndrome Occurrence False Congenital Inferred relationship Some 1
Allan-Herndon-Dudley syndrome Occurrence True Congenital Inferred relationship Some 2
Allan-Herndon-Dudley syndrome Occurrence False Congenital Inferred relationship Some 3
Allan-Herndon-Dudley syndrome Occurrence True Congenital Inferred relationship Some 4
Corneal dystrophy and perceptive deafness syndrome Occurrence True Congenital Inferred relationship Some 1
IVIC syndrome Occurrence True Congenital Inferred relationship Some 2
Cardiospondylocarpofacial syndrome Occurrence True Congenital Inferred relationship Some 5
Lowry Yong syndrome Occurrence True Congenital Inferred relationship Some 4
Deafness and intellectual disability Martin Probst type syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital cataract with deafness and hypogonadism syndrome Occurrence True Congenital Inferred relationship Some 3
Chitty Hall Baraitser syndrome Occurrence True Congenital Inferred relationship Some 3
Deafness craniofacial syndrome Occurrence True Congenital Inferred relationship Some 2
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome Occurrence True Congenital Inferred relationship Some 7
Severe X-linked mitochondrial encephalomyopathy Occurrence True Congenital Inferred relationship Some 2
Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome Occurrence True Congenital Inferred relationship Some 1
Combined oxidative phosphorylation defect type 30 Occurrence True Congenital Inferred relationship Some 1
Combined oxidative phosphorylation defect type 29 Occurrence True Congenital Inferred relationship Some 2
Combined oxidative phosphorylation defect type 27 Occurrence True Congenital Inferred relationship Some 2
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome Occurrence True Congenital Inferred relationship Some 2
X-linked corneal dermoid Occurrence True Congenital Inferred relationship Some 1
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Occurrence True Congenital Inferred relationship Some 1
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Occurrence True Congenital Inferred relationship Some 2
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Occurrence True Congenital Inferred relationship Some 3
Kosaki overgrowth syndrome Occurrence True Congenital Inferred relationship Some 1
Kosaki overgrowth syndrome Occurrence True Congenital Inferred relationship Some 2
PMP22-RAI1 contiguous gene duplication syndrome Occurrence True Congenital Inferred relationship Some 1
PMP22-RAI1 contiguous gene duplication syndrome Occurrence True Congenital Inferred relationship Some 2
X-linked congenital dyserythropoietic anaemia with thrombocytopenia Occurrence True Congenital Inferred relationship Some 4
Multiple carboxylase deficiency Occurrence True Congenital Inferred relationship Some 1
X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome Occurrence True Congenital Inferred relationship Some 2
X-linked intellectual disability with marfanoid habitus Occurrence True Congenital Inferred relationship Some 1
Christianson syndrome Occurrence True Congenital Inferred relationship Some 1
X-linked neurodegenerative syndrome Bertini type 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 Occurrence True Congenital Inferred relationship Some 2
Combined oxidative phosphorylation defect type 23 Occurrence True Congenital Inferred relationship Some 1
Arteriovenous malformation of large intestine Occurrence True Congenital Inferred relationship Some 1571538946
Atrichia with papular lesions Occurrence True Congenital Inferred relationship Some 1539513574
Atrichia congenita Occurrence True Congenital Inferred relationship Some 1373189530
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 generalised hypercontractile muscle stiffness syndrome Occurrence True Congenital Inferred relationship Some 3
Congenital generalised hypercontractile muscle stiffness syndrome Occurrence True Congenital Inferred relationship Some 2
Mulberry molar teeth Occurrence True Congenital Inferred relationship Some 2
Laminopathy with premature ageing 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 Occurrence False Congenital Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 78 Occurrence False Congenital Inferred relationship Some 2
Congenital cerebellar ataxia due to RNU12 mutation Occurrence True Congenital Inferred relationship Some 1
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 2
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome Occurrence True Congenital Inferred relationship Some 1
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome Occurrence True Congenital Inferred relationship Some 2
Intermediate epidermolysis bullosa simplex with cardiomyopathy Occurrence True Congenital Inferred relationship Some 2
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome 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 Occurrence True Congenital Inferred relationship Some 6
Metopic ridging, ptosis, facial dysmorphism syndrome Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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