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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
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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
Congenital anomaly of anterior chamber of eye Occurrence False Congenital Inferred relationship Some
Congenital atresia of colon Occurrence False Congenital Inferred relationship Some
Congenital enlargement of coronary sinus Occurrence False Congenital Inferred relationship Some
Abnormal number of leaflets Occurrence False Congenital Inferred relationship Some
Cystinuria, type 1 Occurrence False Congenital Inferred relationship Some
Disorder of tyrosine metabolism (disorder) Occurrence False Congenital Inferred relationship Some
Congenital absence of all toes Occurrence False Congenital Inferred relationship Some
Congenital tuberculosis Occurrence False Congenital Inferred relationship Some
Cyclops hypognathus Occurrence False Congenital Inferred relationship Some
Congenital eventration of right crus of diaphragm Occurrence False Congenital Inferred relationship Some
Royer's syndrome Occurrence False Congenital Inferred relationship Some
Anomaly of chromosome pair 7 (disorder) Occurrence False Congenital Inferred relationship Some
Meckel's diverticulum Occurrence False Congenital Inferred relationship Some
Known OR suspected fetal spina bifida with myelomeningocele affecting obstetrical care Occurrence False Congenital Inferred relationship Some 9
Failure of rotation of colon Occurrence False Congenital Inferred relationship Some
Hyperlipoproteinemia Occurrence False Congenital Inferred relationship Some
4q partial monosomy syndrome Occurrence False Congenital Inferred relationship Some
Malrotation of cecum Occurrence False Congenital Inferred relationship Some
Anomaly of chromosome pair 12 Occurrence False Congenital Inferred relationship Some
Hypopigmentation-immunodeficiency disease Occurrence False Congenital Inferred relationship Some
Anomalous pulmonary venous drainage to right atrium Occurrence False Congenital Inferred relationship Some
glycogénose de type X Occurrence False Congenital Inferred relationship Some 1
Congenital absence of cervix Occurrence False Congenital Inferred relationship Some
Holoacardius Occurrence False Congenital Inferred relationship Some
Neonatal hypermethioninemia Occurrence False Congenital Inferred relationship Some
Congenital deformity of wall of nasal sinus Occurrence False Congenital Inferred relationship Some
Disorder of proline AND/OR hydroxyproline metabolism Occurrence False Congenital Inferred relationship Some
Morquio syndrome Occurrence False Congenital Inferred relationship Some 2
Enamel pearls Occurrence False Congenital Inferred relationship Some
Congenital uterine anomaly Occurrence False Congenital Inferred relationship Some
Discoid kidney Occurrence False Congenital Inferred relationship Some
Congenital anomaly of urinary bladder (disorder) Occurrence False Congenital Inferred relationship Some
Periodontal cyst Occurrence False Congenital Inferred relationship Some
Accessory ovary Occurrence False Congenital Inferred relationship Some
Hyperdicarboxylicaminoaciduria AND hyperprolinemia Occurrence False Congenital Inferred relationship Some
Congenital fissure of tongue Occurrence False Congenital Inferred relationship Some
Rotation of tooth Occurrence False Congenital Inferred relationship Some 2
Functional asplenia Occurrence False Congenital Inferred relationship Some
hydromyélocèle Occurrence False Congenital Inferred relationship Some
Congenital anomaly of integument Occurrence False Congenital Inferred relationship Some
Encephalo-ophthalmic dysplasia Occurrence False Congenital Inferred relationship Some
Oculodentodigital syndrome Occurrence False Congenital Inferred relationship Some
Congenital anomaly of ovary Occurrence False Congenital Inferred relationship Some
Fetal warfarin syndrome Occurrence False Congenital Inferred relationship Some
Congenital porencephaly Occurrence False Congenital Inferred relationship Some
A rare congenital malformation characterised by a unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, ipsilateral breast and nipple anomalies, hypoplasia of the pectoral subcutaneous tissue, absence of pectoral and axillary hair, and possibly accompanied by chest wall and/or upper limb defects. Occurrence False Congenital Inferred relationship Some
Cystathione gamma-lyase deficiency Occurrence False Congenital Inferred relationship Some
Persistent left posterior cardinal vein Occurrence False Congenital Inferred relationship Some
Uterus arcuatus Occurrence False Congenital Inferred relationship Some
Cranial duplication Occurrence False Congenital Inferred relationship Some
Congenital duplication of intestine Occurrence False Congenital Inferred relationship Some
Langer mesomelic dysplasia syndrome Occurrence False Congenital Inferred relationship Some
Displacement of tooth Occurrence False Congenital Inferred relationship Some
Sulfite oxidase deficiency Occurrence False Congenital Inferred relationship Some
Cystinosis Occurrence False Congenital Inferred relationship Some
Pharyngeal pituitary tissue Occurrence False Congenital Inferred relationship Some
Fetal mummification (disorder) Occurrence False Congenital Inferred relationship Some
Pectus carinatum (disorder) Occurrence False Congenital Inferred relationship Some
Congenital absence of skeletal muscle Occurrence False Congenital Inferred relationship Some
Alcaptonuria Occurrence False Congenital Inferred relationship Some
Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non-dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations. Occurrence True Congenital Inferred relationship Some 1
Turner syndrome Occurrence False Congenital Inferred relationship Some
Congenital anomaly of the thymus Occurrence False Congenital Inferred relationship Some
Congenital fusion of spine Occurrence False Congenital Inferred relationship Some
Lutembacher's anomaly Occurrence False Congenital Inferred relationship Some
XXXXY syndrome Occurrence False Congenital Inferred relationship Some
Congenital anomaly of appendix Occurrence False Congenital Inferred relationship Some
Syndactyly of toes with fusion of bones (disorder) Occurrence False Congenital Inferred relationship Some
Congenital absence of auricle with atresia of auditory canal Occurrence False Congenital Inferred relationship Some
Deficiency of alpha-dextrin endo-1,6-alpha-glucosidase Occurrence True Congenital Inferred relationship Some 1
Tricho-dento-osseous syndrome Occurrence False Congenital Inferred relationship Some
Brachyphalangia Occurrence False Congenital Inferred relationship Some
Lysinuric protein intolerance Occurrence False Congenital Inferred relationship Some
Interruption of aortic arch Occurrence False Congenital Inferred relationship Some
Propionyl-CoA carboxylase deficiency Occurrence False Congenital Inferred relationship Some
Glutathione synthase deficiency with 5-oxoprolinuria Occurrence False Congenital Inferred relationship Some 1
Congenital anomaly of spinal meninges Occurrence False Congenital Inferred relationship Some
Epidermolysis bullosa simplex of the hands AND/OR feet Occurrence False Congenital Inferred relationship Some
Subungual fibroma Occurrence False Congenital Inferred relationship Some
Fundus coloboma Occurrence False Congenital Inferred relationship Some
Niemann-Pick disease, type B Occurrence True Congenital Inferred relationship Some 1
Dolichocephalic dwarfism Occurrence False Congenital Inferred relationship Some
Pachyonychia congenita syndrome Occurrence False Congenital Inferred relationship Some
Thyroglossal duct cyst Occurrence False Congenital Inferred relationship Some
Congenital stricture of rectum Occurrence False Congenital Inferred relationship Some
Congenital atresia of vas deferens Occurrence False Congenital Inferred relationship Some
Redundant prepuce Occurrence False Congenital Inferred relationship Some
Congenital depression in skull Occurrence False Congenital Inferred relationship Some
Monocephalus Occurrence False Congenital Inferred relationship Some
Congenital hypoplasia of inner granular layer of cerebellum Occurrence False Congenital Inferred relationship Some
Hypoplasia of right heart Occurrence False Congenital Inferred relationship Some
Facio-auriculo-vertebral spectrum (disorder) Occurrence False Congenital Inferred relationship Some
Transposition of intestine Occurrence False Congenital Inferred relationship Some
Gingival cyst of newborn Occurrence False Congenital Inferred relationship Some
Congenital atresia of nares Occurrence False Congenital Inferred relationship Some
Ectrodactyly-ectodermal dysplasia-clefting syndrome Occurrence False Congenital Inferred relationship Some
maladie de Hand-Schüller-Christian Occurrence False Congenital Inferred relationship Some
Ochronotic arthritis Occurrence False Congenital Inferred relationship Some
Congenital absence of trachea Occurrence False Congenital Inferred relationship Some
Scimitar syndrome Occurrence False Congenital Inferred relationship Some
Disorder of fatty acid metabolism Occurrence True Congenital Inferred relationship Some 1

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