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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
Unilateral complete cleft palate Occurrence False Congenital Inferred relationship Some
Adult hypophosphatasia Occurrence True Congenital Inferred relationship Some 2
syndrome d'Ehlers-Danlos type 2 Occurrence False Congenital Inferred relationship Some
Neurocutaneous melanosis sequence Occurrence False Congenital Inferred relationship Some
Exstrophy of cloaca sequence Occurrence False Congenital Inferred relationship Some
Congenital cubitus varus Occurrence False Congenital Inferred relationship Some
Congenital liver grooves Occurrence False Congenital Inferred relationship Some
Congenital postural scoliosis Occurrence False Congenital Inferred relationship Some
Congenital anomaly of finger (disorder) Occurrence False Congenital Inferred relationship Some
Progressive infantile idiopathic scoliosis Occurrence False Congenital Inferred relationship Some
Anisomelia Occurrence False Congenital Inferred relationship Some
Cockayne syndrome Occurrence False Congenital Inferred relationship Some
Complete trisomy 13 syndrome Occurrence False Congenital Inferred relationship Some
Congenital stenosis of aorta Occurrence False Congenital Inferred relationship Some
Lingual thyroid Occurrence False Congenital Inferred relationship Some
Ambiguous genitalia Occurrence False Congenital Inferred relationship Some
Double uterus affecting pregnancy Occurrence False Congenital Inferred relationship Some
Colloid cyst of third ventricle Occurrence False Congenital Inferred relationship Some
X chromosome-linked pyridoxine refractory sideroblastic anemia Occurrence False Congenital Inferred relationship Some
Complete trisomy 14 syndrome Occurrence False Congenital Inferred relationship Some
Chronic granulomatous disease, type IV Occurrence False Congenital Inferred relationship Some
Beta-aminoisobutyric aciduria (disorder) Occurrence False Congenital Inferred relationship Some
Cephalothoracopagus Occurrence False Congenital Inferred relationship Some
Accessory broad ligament Occurrence False Congenital Inferred relationship Some
Congenital zonular cataract Occurrence False Congenital Inferred relationship Some
Borjeson-Forssman-Lehmann syndrome Occurrence False Congenital Inferred relationship Some
Retinal hemangioblastomatosis Occurrence False Congenital Inferred relationship Some
Renal carnitine transport defect Occurrence True Congenital Inferred relationship Some 1
Supernumerary cusps of mitral valve Occurrence False Congenital Inferred relationship Some
Umbilical polyp Occurrence False Congenital Inferred relationship Some
Plagiocephaly Occurrence False Congenital Inferred relationship Some
Osler hemorrhagic telangiectasia syndrome Occurrence False Congenital Inferred relationship Some
Manus valga Occurrence False Congenital Inferred relationship Some
Congenital anomaly of middle ear Occurrence False Congenital Inferred relationship Some
Ochronosis Occurrence False Congenital Inferred relationship Some
Pili annulati Occurrence False Congenital Inferred relationship Some
Cystinuria, type 2 Occurrence False Congenital Inferred relationship Some
Single coronary artery Occurrence False Congenital Inferred relationship Some
Riley-Smith syndrome Occurrence False Congenital Inferred relationship Some
Natal tooth Occurrence False Congenital Inferred relationship Some
Robert's pelvis Occurrence False Congenital Inferred relationship Some
Hypertelorism Occurrence False Congenital Inferred relationship Some
Hartnup disorder, renal type Occurrence False Congenital Inferred relationship Some
A male with two or more X chromosomes. Occurrence False Congenital Inferred relationship Some
X-linked glutaric aciduria, type 2 Occurrence False Congenital Inferred relationship Some 1
Congenital valgus deformity of foot Occurrence False Congenital Inferred relationship Some
Congenital anomaly of vena cava Occurrence False Congenital Inferred relationship Some
Congenital anomaly of the peripheral nervous system Occurrence False Congenital Inferred relationship Some
Congenital absence of ear lobe Occurrence False Congenital Inferred relationship Some
Anterior chamber cleavage syndrome Occurrence False Congenital Inferred relationship Some
A rare hereditary patellar dysostosis characterised by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. Occurrence False Congenital Inferred relationship Some
Chimera Occurrence False Congenital Inferred relationship Some
Severe combined immunodeficiency due to absent lymphoid stem cells (disorder) Occurrence True Congenital Inferred relationship Some 2
Congenital absence of urinary bladder Occurrence False Congenital Inferred relationship Some
Hemispheric cerebellar agenesis Occurrence False Congenital Inferred relationship Some
9q partial trisomy syndrome Occurrence False Congenital Inferred relationship Some
Uterus bilocularis Occurrence False Congenital Inferred relationship Some
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Occurrence False Congenital Inferred relationship Some
Congenital absence of salivary gland Occurrence False Congenital Inferred relationship Some
Atretocephalus Occurrence False Congenital Inferred relationship Some
Intermittent maple syrup urine disease Occurrence False Congenital Inferred relationship Some
Anomalous pulmonary venous drainage to abdominal portion of inferior vena cava Occurrence False Congenital Inferred relationship Some
Metatropic dysplasia (disorder) Occurrence False Congenital Inferred relationship Some
Mandibular prognathism Occurrence False Congenital Inferred relationship Some
Juvenile nephropathic cystinosis Occurrence True Congenital Inferred relationship Some 1
Phocomelia Occurrence False Congenital Inferred relationship Some
Congenital septation of gallbladder Occurrence False Congenital Inferred relationship Some
Longitudinal deficiency of phalanges of hand Occurrence False Congenital Inferred relationship Some
Glutaric aciduria, type 2 Occurrence True Congenital Inferred relationship Some 1
Chondrodysplasia punctata, Conradi-Hünermann type Occurrence False Congenital Inferred relationship Some
G-6-PD class I variant anemia Occurrence True Congenital Inferred relationship Some 4
Congenital erythropoietic porphyria Occurrence True Congenital Inferred relationship Some 1
Goltz syndrome Occurrence False Congenital Inferred relationship Some
Ehlers-Danlos syndrome Occurrence False Congenital Inferred relationship Some
Macrogyria Occurrence False Congenital Inferred relationship Some
Congenital anomaly of cricoid cartilage Occurrence False Congenital Inferred relationship Some
Congenital atresia of mitral valve Occurrence False Congenital Inferred relationship Some
Unilateral congenital dysplasia of lung with vascular anomalies Occurrence False Congenital Inferred relationship Some
A rare complex overgrowth syndrome characterised by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Occurrence False Congenital Inferred relationship Some
Mild maple syrup urine disease Occurrence True Congenital Inferred relationship Some 1
Congenital atrophy of kidney Occurrence False Congenital Inferred relationship Some
Vertical overbite Occurrence False Congenital Inferred relationship Some
Common variable agammaglobulinemia Occurrence False Congenital Inferred relationship Some 1
Multiple malformation syndrome with facial-limb defects as major feature Occurrence False Congenital Inferred relationship Some
Congenital stricture of ureterovesical orifice Occurrence False Congenital Inferred relationship Some
Congenital pes planus Occurrence False Congenital Inferred relationship Some
GTP cyclohydrolase I deficiency Occurrence False Congenital Inferred relationship Some
Arginase deficiency Occurrence True Congenital Inferred relationship Some 1
Atresia of salivary duct Occurrence False Congenital Inferred relationship Some
Congenital stenosis of vagina Occurrence False Congenital Inferred relationship Some
Metatarsus adductus Occurrence False Congenital Inferred relationship Some
Glucoaminophosphaturia syndrome with rickets Occurrence False Congenital Inferred relationship Some
Disorder of lysosomal enzyme Occurrence True Congenital Inferred relationship Some 1
Hyper-beta-alaninemia Occurrence False Congenital Inferred relationship Some
Anonychia (disorder) Occurrence False Congenital Inferred relationship Some
Congenital pyloric antral membrane Occurrence False Congenital Inferred relationship Some
A rare chromosomal disorder, characterised by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioural problems. Occurrence False Congenital Inferred relationship Some
Levy-Hollister syndrome Occurrence False Congenital Inferred relationship Some
Sandhoff disease Occurrence True Congenital Inferred relationship Some 1
Congenital dislocation of glenohumeral joint Occurrence False Congenital Inferred relationship Some
Congenital anomaly of peripheral nerve Occurrence False Congenital Inferred relationship Some

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