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
kendt ELLER mistanke om føtal hydrocefalus med indvirkning på obstetrisk behandling og pleje	Occurrence	False	Congenital	Inferred relationship	Some
Cleft lip	Occurrence	False	Congenital	Inferred relationship	Some
Aplasia of cementum	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of thyroid cartilage	Occurrence	False	Congenital	Inferred relationship	Some
Roger's disease	Occurrence	False	Congenital	Inferred relationship	Some
Porokeratosis of Mibelli	Occurrence	False	Congenital	Inferred relationship	Some
Complete bilateral cleft lip	Occurrence	False	Congenital	Inferred relationship	Some
Neonatal hyperhistidinemia	Occurrence	False	Congenital	Inferred relationship	Some
Uterus bicornuatus vetularum	Occurrence	False	Congenital	Inferred relationship	Some
Spongy degeneration of central nervous system	Occurrence	False	Congenital	Inferred relationship	Some
Aicardi's syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Juvenile pelvis	Occurrence	False	Congenital	Inferred relationship	Some
Floating gallbladder	Occurrence	False	Congenital	Inferred relationship	Some
Congenital spondylolysis of lumbosacral region	Occurrence	False	Congenital	Inferred relationship	Some
Marinesco-Sjögren syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Escobar syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital stricture of vesicourethral orifice	Occurrence	False	Congenital	Inferred relationship	Some
Congenital hypoplasia of lung	Occurrence	False	Congenital	Inferred relationship	Some
Omphalomesenteric duct cyst	Occurrence	False	Congenital	Inferred relationship	Some
Inherited methylmalonic acidemia AND homocystinuria	Occurrence	False	Congenital	Inferred relationship	Some
Neutral 1 amino acid transport defect	Occurrence	False	Congenital	Inferred relationship	Some
Ornithine carbamoyltransferase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
G-6-PD class V variant anemia	Occurrence	True	Congenital	Inferred relationship	Some	4
Congenital anomaly of spinal cord	Occurrence	False	Congenital	Inferred relationship	Some
Congenital atresia of vein	Occurrence	False	Congenital	Inferred relationship	Some
Congenital diverticulum of urinary bladder (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of hand	Occurrence	False	Congenital	Inferred relationship	Some
Diffuse palmoplantar keratoderma	Occurrence	False	Congenital	Inferred relationship	Some
Ectrodactyly	Occurrence	False	Congenital	Inferred relationship	Some
Anomaly of tooth position	Occurrence	False	Congenital	Inferred relationship	Some
7q partial monosomy	Occurrence	False	Congenital	Inferred relationship	Some
Ischiomelus	Occurrence	False	Congenital	Inferred relationship	Some
Polysyndaktylisyndrom	Occurrence	False	Congenital	Inferred relationship	Some
Kongenit abdominalvæganomali	Occurrence	False	Congenital	Inferred relationship	Some
Anomaly of chromosome Y	Occurrence	False	Congenital	Inferred relationship	Some
kongenit opacitet i corpus vitreum	Occurrence	False	Congenital	Inferred relationship	Some
Hydromeningomyelocele	Occurrence	False	Congenital	Inferred relationship	Some
Metatarsus primus varus	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of inferior vena cava	Occurrence	False	Congenital	Inferred relationship	Some
Mulibrey nanism syndrome	Occurrence	False	Congenital	Inferred relationship	Some
An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.	Occurrence	False	Congenital	Inferred relationship	Some
hemimeli af underekstremitet	Occurrence	False	Congenital	Inferred relationship	Some	3
Opitz-Frias syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Beckwith-Wiedemann syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Polydactyly of fingers (disorder)	Occurrence	False	Congenital	Inferred relationship	Some	3
Alexander disease	Occurrence	False	Congenital	Inferred relationship	Some	4
Dysmorphic sialidosis with renal involvement	Occurrence	False	Congenital	Inferred relationship	Some	3
Cor biloculare	Occurrence	False	Congenital	Inferred relationship	Some	3
G-6-PD class IV variant anemia	Occurrence	True	Congenital	Inferred relationship	Some	4
Thoracoparacephalus	Occurrence	False	Congenital	Inferred relationship	Some
kongenit debilitet hos foster	Occurrence	False	Congenital	Inferred relationship	Some	1
A rare disorder that presents as a flat neural placode (at the level of the skin of the back) that is exposed to the environment. The lack of expansion of the subarachnoid space distinguishes this lesion from myelomeningocele.	Occurrence	False	Congenital	Inferred relationship	Some
Congenital hydrocele (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Isoleret levokardi	Occurrence	False	Congenital	Inferred relationship	Some
A congenital disorder of craniofacial development with characteristics of bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. The syndrome is caused by mutations in the TCOF1 gene (5q32) encoding the nucleolar phosphoprotein Treacle or in the POLR1C (6p21.1) or POLR1D (13q12.2) genes, coding for RNA polymerase I and III subunits. Transmission is autosomal dominant with 90% penetrance and variable expressivity, even among affected patients within the same family. Mutations in POLR1C gene are inherited in autosomal recessive manner.	Occurrence	False	Congenital	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	Occurrence	False	Congenital	Inferred relationship	Some
Cobalamin B disease	Occurrence	False	Congenital	Inferred relationship	Some
Hyperimmunoglobulin M syndrome	Occurrence	False	Congenital	Inferred relationship	Some	1
Chronic granulomatous disease, type III	Occurrence	False	Congenital	Inferred relationship	Some
Acyl-CoA dehydrogenase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Late congenital syphilis (2 years or more) (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
XY females	Occurrence	False	Congenital	Inferred relationship	Some
Yellow mutant oculocutaneous albinism	Occurrence	False	Congenital	Inferred relationship	Some
Congenital infectious disease	Occurrence	False	Congenital	Inferred relationship	Some
Multiple system malformation syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Endocardial fibroelastosis unassociated with other cardiac abnormalities.	Occurrence	False	Congenital	Inferred relationship	Some
Giant esophagus	Occurrence	False	Congenital	Inferred relationship	Some
Congenital stenosis of mitral valve	Occurrence	False	Congenital	Inferred relationship	Some
Wolman's disease	Occurrence	True	Congenital	Inferred relationship	Some	1
Embryonic cyst of Gartner's duct	Occurrence	False	Congenital	Inferred relationship	Some
Congenital cystic kidney disease	Occurrence	False	Congenital	Inferred relationship	Some
Kongenit komplet atrioventrikulært blok	Occurrence	False	Congenital	Inferred relationship	Some
Accessory urethra	Occurrence	False	Congenital	Inferred relationship	Some
Segmental uterine aplasia	Occurrence	False	Congenital	Inferred relationship	Some
Osteopathia striata	Occurrence	False	Congenital	Inferred relationship	Some
A rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasia. The disease has characteristics of progressive dwarfism with short trunk, protruding sternum, microcephaly and intellectual disability of varying severity. Caused by mutations of the DYM gene (18q21.1). The large majority of mutations identified in the gene predict a loss of function of its product. DYM is expressed in the majority of tissue and codes for Dymeclin, a protein that interacts with membranes of the Golgi apparatus, but its role within the cell is still unknown. Transmission is autosomal recessive.	Occurrence	False	Congenital	Inferred relationship	Some
Late congenital syphilis, latent (+ sero., - C.S.F., 2 years OR more)	Occurrence	False	Congenital	Inferred relationship	Some
Progressive myositis ossificans	Occurrence	False	Congenital	Inferred relationship	Some
7p partial trisomy (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Astragaloscaphoid synostosis	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of prostate	Occurrence	False	Congenital	Inferred relationship	Some
Congenital atresia of extrahepatic bile duct	Occurrence	False	Congenital	Inferred relationship	Some
Kenny syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of pancreas	Occurrence	False	Congenital	Inferred relationship	Some
Dementia paralytica juvenilis	Occurrence	False	Congenital	Inferred relationship	Some
Amino acid deficiency	Occurrence	False	Congenital	Inferred relationship	Some
Caudal regression syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Saethre-Chotzen syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital partial absence of alimentary tract	Occurrence	False	Congenital	Inferred relationship	Some
Disorder of glycine metabolism	Occurrence	False	Congenital	Inferred relationship	Some
Shprintzens syndrom	Occurrence	False	Congenital	Inferred relationship	Some
Congenital insufficiency of tricuspid valve	Occurrence	False	Congenital	Inferred relationship	Some
Eisenmengers syndrom	Occurrence	False	Congenital	Inferred relationship	Some
Abnormal dermatoglyphic pattern	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of adrenal gland	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of spermatic cord	Occurrence	False	Congenital	Inferred relationship	Some
Patent ductus arteriosus	Occurrence	False	Congenital	Inferred relationship	Some
Ehlers-Danlos' syndrom, type 1	Occurrence	False	Congenital	Inferred relationship	Some
Kongenit syfilitisk rinit	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of breast	Occurrence	False	Congenital	Inferred relationship	Some
Mixed gonadal dysgenesis	Occurrence	False	Congenital	Inferred relationship	Some

Start Previous Page 47 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)