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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 peripheral nerve Occurrence False Congenital Inferred relationship Some
Achondrogenesis Occurrence False Congenital Inferred relationship Some
Ectopic splenic tissue Occurrence False Congenital Inferred relationship Some
Imperfect fusion of skull Occurrence False Congenital Inferred relationship Some
Funicular hernia of umbilical cord Occurrence False Congenital Inferred relationship Some
Anomaly of dental arch (disorder) Occurrence False Congenital Inferred relationship Some
Hyperleucinemia Occurrence False Congenital Inferred relationship Some
Median mandibular cyst Occurrence False Congenital Inferred relationship Some
Complete bilateral cleft palate Occurrence False Congenital Inferred relationship Some
Congenital chorioretinal degeneration Occurrence False Congenital Inferred relationship Some
A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus. Occurrence False Congenital Inferred relationship Some
Congenital dilatation of colon Occurrence False Congenital Inferred relationship Some
Xiphopagus (disorder) Occurrence False Congenital Inferred relationship Some
Cystathionine beta-synthase deficiency Occurrence True Congenital Inferred relationship Some 1
Metachromatic leucodystrophy, adult type Occurrence False Congenital Inferred relationship Some
microsomie partielle Occurrence False Congenital Inferred relationship Some
Accessory thymic tissue Occurrence False Congenital Inferred relationship Some
Iniencephaly Occurrence True Congenital Inferred relationship Some 1
Thoracodelphus Occurrence False Congenital Inferred relationship Some
Mutilating keratoderma Occurrence False Congenital Inferred relationship Some
Primary gout Occurrence False Congenital Inferred relationship Some
Accessory eyelid Occurrence False Congenital Inferred relationship Some
Laterality sequence Occurrence False Congenital Inferred relationship Some
Posterior open bite Occurrence False Congenital Inferred relationship Some
Metaphyseal chondrodysplasia, Jansen type Occurrence False Congenital Inferred relationship Some
G-6-PD class III variant anemia Occurrence True Congenital Inferred relationship Some 4
Thoracopagus parasiticus Occurrence False Congenital Inferred relationship Some
Townes syndrome Occurrence False Congenital Inferred relationship Some
Infantile cortical hyperostosis (disorder) Occurrence False Congenital Inferred relationship Some
7p partial monosomy (disorder) Occurrence False Congenital Inferred relationship Some
Congenital absence of broad ligament Occurrence False Congenital Inferred relationship Some
Potter's facies Occurrence False Congenital Inferred relationship Some
Congenital postural lordosis Occurrence False Congenital Inferred relationship Some
Congenital cerebral arteriovenous aneurysm Occurrence False Congenital Inferred relationship Some
Congenital anomaly of sternocleidomastoid muscle Occurrence False Congenital Inferred relationship Some
Mild hereditary spherocytosis due to combined deficiency of spectrin AND ankyrin Occurrence False Congenital Inferred relationship Some
Benign adult cystinosis Occurrence True Congenital Inferred relationship Some 1
Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome Occurrence False Congenital Inferred relationship Some
hydroméningocèle Occurrence False Congenital Inferred relationship Some
Congenital absence of uvula Occurrence False Congenital Inferred relationship Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency Occurrence False Congenital Inferred relationship Some
Coalition of calcaneus Occurrence False Congenital Inferred relationship Some
Hereditary spherocytosis due to spectrin deficiency Occurrence False Congenital Inferred relationship Some
Longitudinal deficiency of phalanges of foot Occurrence False Congenital Inferred relationship Some
Uterus parvicollis Occurrence False Congenital Inferred relationship Some
Congenital absence of vena cava Occurrence False Congenital Inferred relationship Some
HSMN IV Occurrence True Congenital Inferred relationship Some 5
Aqueduct of Sylvius anomaly Occurrence False Congenital Inferred relationship Some
Primordial cyst Occurrence False Congenital Inferred relationship Some
Autosomal recessive glutaric aciduria, type 2 Occurrence False Congenital Inferred relationship Some 1
X chromosome-linked pyridoxine responsive sideroblastic anemia Occurrence False Congenital Inferred relationship Some
Congenital absence of left pulmonary artery Occurrence False Congenital Inferred relationship Some
Syndactyly of fingers with fusion of bones Occurrence False Congenital Inferred relationship Some
Ehlers-Danlos syndrome, hydroxylysine-deficient Occurrence False Congenital Inferred relationship Some
Congenital duodenal obstruction due to malrotation of intestine Occurrence False Congenital Inferred relationship Some
Congenital fissure of sternum Occurrence False Congenital Inferred relationship Some
Isolated cystinuria Occurrence False Congenital Inferred relationship Some
Hyperhydroxyprolinemia Occurrence False Congenital Inferred relationship Some
Neonatal iminoglycinuria Occurrence False Congenital Inferred relationship Some
Xeroderma pigmentosum, group C Occurrence False Congenital Inferred relationship Some
Kearns-Sayre syndrome Occurrence True Congenital Inferred relationship Some 1
Chiari's network Occurrence False Congenital Inferred relationship Some
Congenital atresia of ileum Occurrence False Congenital Inferred relationship Some
Dubowitz's syndrome Occurrence False Congenital Inferred relationship Some
Congenital absence of rectum Occurrence False Congenital Inferred relationship Some
Bone island Occurrence False Congenital Inferred relationship Some
Maroteaux-Lamy syndrome, intermediate form Occurrence True Congenital Inferred relationship Some 1
Congenital absence of external auditory canal Occurrence False Congenital Inferred relationship Some
Microcornea Occurrence False Congenital Inferred relationship Some
5-Oxoprolinase deficiency Occurrence True Congenital Inferred relationship Some 1
Complete transposition of great vessels Occurrence False Congenital Inferred relationship Some
Ectopic bone tissue, congenital Occurrence False Congenital Inferred relationship Some
Congenital atresia of esophagus Occurrence False Congenital Inferred relationship Some
Frog fetus Occurrence False Congenital Inferred relationship Some
Aortic left ventricular tunnel Occurrence False Congenital Inferred relationship Some
Senter syndrome Occurrence False Congenital Inferred relationship Some
Chronic granulomatous disease, type IIA Occurrence False Congenital Inferred relationship Some
Uterus incudiformis Occurrence False Congenital Inferred relationship Some
Congenital obstruction of small intestine Occurrence False Congenital Inferred relationship Some
Tyrosinase-positive oculocutaneous albinism Occurrence False Congenital Inferred relationship Some
Ocular albinism Occurrence False Congenital Inferred relationship Some
Congenital tracheocele Occurrence False Congenital Inferred relationship Some
Congenital dyserythropoietic anemia, type III Occurrence True Congenital Inferred relationship Some 5
Agyria Occurrence False Congenital Inferred relationship Some
Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal Occurrence False Congenital Inferred relationship Some
11p partial trisomy syndrome Occurrence False Congenital Inferred relationship Some
Faun tail syndrome Occurrence False Congenital Inferred relationship Some 4
Congenital ectropion Occurrence False Congenital Inferred relationship Some
Syringobulbia Occurrence False Congenital Inferred relationship Some
Congenital absence of part of brain Occurrence False Congenital Inferred relationship Some
Anodontia Occurrence False Congenital Inferred relationship Some
Robinson nail dystrophy-deafness syndrome Occurrence False Congenital Inferred relationship Some
Persistent thyroglossal duct Occurrence False Congenital Inferred relationship Some
Mucopolysaccharidosis, MPS-I-H/S Occurrence True Congenital Inferred relationship Some 1
Coarctation of pulmonary artery Occurrence False Congenital Inferred relationship Some
Congenital absence of superior vena cava Occurrence False Congenital Inferred relationship Some
Cervical auricle Occurrence False Congenital Inferred relationship Some
Dominant dystrophic epidermolysis bullosa with absence of skin Occurrence False Congenital Inferred relationship Some
Coronary ostium stenosis Occurrence False Congenital Inferred relationship Some
Anterior crossbite Occurrence False Congenital Inferred relationship Some
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Occurrence False Congenital Inferred relationship Some

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