255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Fetal and/or neonatal period\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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
Komplet unilateral ganespalte	Occurrence	False	Congenital	Inferred relationship	Some
Adult hypophosphatasia	Occurrence	True	Congenital	Inferred relationship	Some	2
Ehlers-Danlos' syndrom, type 2	Occurrence	False	Congenital	Inferred relationship	Some
Neurokutan melanose-sekvens	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	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
Komplet trisomi 14-syndrom	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-Smiths syndrom	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-bundet glutaraciduri, 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
Forkammerkløvningssyndrom	Occurrence	False	Congenital	Inferred relationship	Some
Nail-patella syndrome is a rare hereditary patellar dysostosis with characteristics of 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
manglende åbninger i kraniet	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	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 (disorder)	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' syndrom	Occurrence	False	Congenital	Inferred relationship	Some
Ehlers-Danlos syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Macrogyria (disorder)	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 kongenit dysplasi af lunge med vaskulære anomalier	Occurrence	False	Congenital	Inferred relationship	Some
A very rare and complex hamartomatous overgrowth disorder with characteristics of progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Neonates usually appear normal at birth. Onset usually occurs from 6-18 months of age with asymmetric overgrowth seen mainly in the hands or feet. Causal mutations have been reported in two components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway: PTEN and AKT1. The AKT1 mutation is a somatic mosaic. PTEN mutations have been reported both in the constitutive DNA and as somatic mosaic mutations. The disease is not inherited in those with a somatic AKT1 de novo mutation; PTEN mutations are inherited autosomal dominantly.	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
Glucoaminophosphaturi-syndrom med rakit	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	Occurrence	False	Congenital	Inferred relationship	Some
Congenital pyloric antral membrane	Occurrence	False	Congenital	Inferred relationship	Some
Disease marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioral problems. In rare cases, brain, kidney or heart malformations may be present.	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

Start Previous Page 28 of 338 Next End

This concept is not in any reference sets

Back to Start

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
2235951000005117	kongenit	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)