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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
Biotin-(propionyl-CoA-carboxylase) ligase deficiency Occurrence False Congenital Inferred relationship Some 1
Dandy-Walker malformation with postaxial polydactyly syndrome Occurrence False Congenital Inferred relationship Some 9
Adult onset multiple mitochondrial DNA deletion syndrome due to deoxyguanosine kinase deficiency Occurrence True Congenital Inferred relationship Some 1
SRD5A3-CDG - steroid 5 alpha-reductase 3 congenital disorder of glycosylation Occurrence True Congenital Inferred relationship Some 1
Microcephalus, lymphoedema, chorioretinopathy syndrome Occurrence True Congenital Inferred relationship Some 1
Familial hypoalphalipoproteinaemia Occurrence True Congenital Inferred relationship Some 1
XY type gonadal dysgenesis with associated anomalies syndrome Occurrence True Congenital Inferred relationship Some 3
XY type gonadal dysgenesis with associated anomalies syndrome Occurrence False Congenital Inferred relationship Some 4
XY type gonadal dysgenesis with associated anomalies syndrome Occurrence False Congenital Inferred relationship Some 5
Summitt syndrome Occurrence False Congenital Inferred relationship Some 3
Summitt syndrome Occurrence False Congenital Inferred relationship Some 4
Double kidney AND/OR pelvis Occurrence False Congenital Inferred relationship Some
Female Kallman's syndrome Occurrence False Congenital Inferred relationship Some
Central nervous system malformation in fetus affecting obstetrical care Occurrence False Congenital Inferred relationship Some
Congenital pyloric membrane Occurrence False Congenital Inferred relationship Some
Omphalocele with obstruction Occurrence False Congenital Inferred relationship Some
Corectopia Occurrence False Congenital Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome Occurrence True Congenital Inferred relationship Some 4
Dementia co-occurrent and due to Down syndrome Occurrence True Congenital Inferred relationship Some 3
Deletion of part of long arm of chromosome 17 Occurrence True Congenital Inferred relationship Some 2
Deletion of part of long arm of chromosome 17 Occurrence False Congenital Inferred relationship Some 3
Congenital cyst of orbit Occurrence False Congenital Inferred relationship Some 1
Congenital dislocation of knee with genu recurvatum Occurrence False Congenital Inferred relationship Some
Endocardial cushion defect Occurrence False Congenital Inferred relationship Some
Citrullinaemia Occurrence False Congenital Inferred relationship Some
Congenital duplication of uterus Occurrence False Congenital Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Occurrence False Congenital Inferred relationship Some
First arch syndrome Occurrence False Congenital Inferred relationship Some
Congenital absence of lobe of lung Occurrence False Congenital Inferred relationship Some
Congenital small renal papilla Occurrence False Congenital Inferred relationship Some
Congenital hypoplasia of renal papilla Occurrence False Congenital Inferred relationship Some
Encephalocele of orbit Occurrence False Congenital Inferred relationship Some
Congenital cleft thyroid cartilage Occurrence False Congenital Inferred relationship Some
Maxillary prognathism Occurrence False Congenital Inferred relationship Some
21q partial monosomy syndrome Occurrence False Congenital Inferred relationship Some
Congenital absence of vertebra Occurrence False Congenital Inferred relationship Some
Albinism Occurrence False Congenital Inferred relationship Some
Mucopolysaccharidosis, MPS-III-D Occurrence True Congenital Inferred relationship Some 1
46,XX disorder of sex development with skeletal anomalies syndrome Occurrence True Congenital Inferred relationship Some 2
46,XX disorder of sex development with skeletal anomalies syndrome Occurrence False Congenital Inferred relationship Some 3
46,XX disorder of sex development with anorectal anomalies syndrome Occurrence True Congenital Inferred relationship Some 2
46,XX disorder of sex development with anorectal anomalies syndrome Occurrence False Congenital Inferred relationship Some 3
Desmiognathus Occurrence False Congenital Inferred relationship Some
Autism spectrum disorder, epilepsy, arthrogryposis syndrome Occurrence False Congenital Inferred relationship Some 3
Autism spectrum disorder, epilepsy, arthrogryposis syndrome Occurrence True Congenital Inferred relationship Some 4
48,XYYY syndrome Occurrence True Congenital Inferred relationship Some 1
Atypical Norrie disease due to monosomy Xp11.3 Occurrence True Congenital Inferred relationship Some 2
Atypical Norrie disease due to monosomy Xp11.3 Occurrence True Congenital Inferred relationship Some 3
Thoraco-abdominal enteric duplication Occurrence True Congenital Inferred relationship Some 1
Deficiency of alpha-ketoglutarate dehydrogenase Occurrence True Congenital Inferred relationship Some 1
3-phosphoglycerate dehydrogenase deficiency juvenile form Occurrence True Congenital Inferred relationship Some 1
3-phosphoglycerate dehydrogenase deficiency infantile form Occurrence True Congenital Inferred relationship Some 1
Acral dystrophic epidermolysis bullosa Occurrence False Congenital Inferred relationship Some 4
Acral dystrophic epidermolysis bullosa Occurrence False Congenital Inferred relationship Some 5
Glycogen storage disease, muscular form Occurrence True Congenital Inferred relationship Some 1
Severe steroid 21-hydroxylase deficiency Occurrence False Congenital Inferred relationship Some
Premature tooth eruption Occurrence False Congenital Inferred relationship Some
Congenital cerebellar hypoplasia Occurrence False Congenital Inferred relationship Some
Imperforate vagina Occurrence False Congenital Inferred relationship Some
Congenital generalised flexion contractures of lower limb joints Occurrence False Congenital Inferred relationship Some
Heterodymus Occurrence False Congenital Inferred relationship Some
10q partial monosomy Occurrence False Congenital Inferred relationship Some
Hereditary orotic aciduria Occurrence False Congenital Inferred relationship Some
Malonic aciduria Occurrence True Congenital Inferred relationship Some 1
Malonyl-CoA decarboxylase deficiency Occurrence False Congenital Inferred relationship Some
Congenital hydronephrosis Occurrence False Congenital Inferred relationship Some
Congenital absence of pelvis and lower limb Occurrence False Congenital Inferred relationship Some
Absent pelvis and lower limb Occurrence False Congenital Inferred relationship Some
Coronary artery abnormality Occurrence False Congenital Inferred relationship Some
Congenital duodenal stenosis Occurrence False Congenital Inferred relationship Some
Cranial hydromeningocele Occurrence False Congenital Inferred relationship Some
Ectopic kidney Occurrence False Congenital Inferred relationship Some
Congenital absence of membranous labyrinth Occurrence False Congenital Inferred relationship Some
Cerebral lipidosis Occurrence True Congenital Inferred relationship Some 1
Mesocardia Occurrence False Congenital Inferred relationship Some
Anomaly of chromosome pair 15 Occurrence False Congenital Inferred relationship Some
Congenital spade-like hand Occurrence False Congenital Inferred relationship Some
Talipomanus Occurrence False Congenital Inferred relationship Some
Congenital occlusion of ureter Occurrence False Congenital Inferred relationship Some
Fabry's disease Occurrence True Congenital Inferred relationship Some 2
Congenital achiasma Occurrence True Congenital Inferred relationship Some 1
X-linked absence of thyroxine-binding globulin Occurrence True Congenital Inferred relationship Some 1
Severe steroid 21-hydroxylase deficiency Occurrence True Congenital Inferred relationship Some 1
Iodotyrosine deiodination defect Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant variant form of albumin Occurrence True Congenital Inferred relationship Some 1
Hereditary vitamin D dependency syndrome, type I Occurrence False Congenital Inferred relationship Some 1
Iodide transport defect Occurrence True Congenital Inferred relationship Some 1
Iodotyrosyl coupling defect Occurrence True Congenital Inferred relationship Some 1
Multiple endocrine neoplasia, type 1 Occurrence False Congenital Inferred relationship Some 2
Inherited disorder of thyroid metabolism Occurrence True Congenital Inferred relationship Some 1
Familial adrenocortical hypoplasia Occurrence True Congenital Inferred relationship Some 1
X-linked reduction of thyroxine-binding globulin Occurrence True Congenital Inferred relationship Some 1
Thyroglobulin proteolysis defect Occurrence True Congenital Inferred relationship Some 1
Glucocorticoid deficiency with achalasia Occurrence True Congenital Inferred relationship Some 2
Hereditary vitamin D dependency syndrome type, II Occurrence False Congenital Inferred relationship Some 1
Thyroid hormone responsiveness defect Occurrence True Congenital Inferred relationship Some 1
Iodide oxidation defect Occurrence True Congenital Inferred relationship Some 1
X-linked excess of thyroxine-binding globulin Occurrence True Congenital Inferred relationship Some 1
Hypothyroidism due to defect in thyroid hormone synthesis Occurrence True Congenital Inferred relationship Some 1
Thyroxine transport defect Occurrence True Congenital Inferred relationship Some 1
Moderate steroid 21-hydroxylase deficiency Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

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