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
Congenital absence of uterus	Occurrence	False	Congenital	Inferred relationship	Some
Fibrochondrogenesis is a rare neonatally lethal rhizomelic chondrodysplasia. The face is distinctive with characteristics of protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins has been reported.	Occurrence	False	Congenital	Inferred relationship	Some
Pili torti (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital diaphragmatic hernia	Occurrence	False	Congenital	Inferred relationship	Some
Dekstroposition af aorta	Occurrence	False	Congenital	Inferred relationship	Some
Fetal valproate syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Allantoic cyst	Occurrence	False	Congenital	Inferred relationship	Some
Congenital clinodactyly	Occurrence	False	Congenital	Inferred relationship	Some
Double artery	Occurrence	False	Congenital	Inferred relationship	Some
Ebstein's anomaly with atrial septal defect	Occurrence	False	Congenital	Inferred relationship	Some
Ectopic thymic tissue	Occurrence	False	Congenital	Inferred relationship	Some
Fusion of teeth	Occurrence	False	Congenital	Inferred relationship	Some
Polyorchism (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Atresia of pupil	Occurrence	False	Congenital	Inferred relationship	Some
Sacralization of lumbar vertebra	Occurrence	False	Congenital	Inferred relationship	Some
Overriding skull bones	Occurrence	False	Congenital	Inferred relationship	Some
Sclerosteosis	Occurrence	False	Congenital	Inferred relationship	Some
Congenital subluxation of carpus	Occurrence	False	Congenital	Inferred relationship	Some
Ivemarks syndom	Occurrence	False	Congenital	Inferred relationship	Some
A rare developmental defect during embryogenesis with characteristics of unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. NSDHL (Xq28) encodes a protein responsible for cholesterol biosynthesis, mutations are typically lethal in males. X-inactivation creates a mosaic of cells lacking the enzyme in females, disrupting embryonic development and leading to a highly variable spectrum of anomalies. Transmission is X-linked dominant.	Occurrence	False	Congenital	Inferred relationship	Some
Thoracodidymus	Occurrence	False	Congenital	Inferred relationship	Some
Ostium primum defect	Occurrence	False	Congenital	Inferred relationship	Some
Acquired megaduodenum	Occurrence	False	Congenital	Inferred relationship	Some
Anomaly of chromosome pair 13	Occurrence	False	Congenital	Inferred relationship	Some
Mohr syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Azygos lobe of lung	Occurrence	False	Congenital	Inferred relationship	Some
Leri-Weill dyschondrosteosis	Occurrence	False	Congenital	Inferred relationship	Some
Cross syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Primary hyperoxaluria	Occurrence	True	Congenital	Inferred relationship	Some	1
Acrokeratosis verruciformis	Occurrence	False	Congenital	Inferred relationship	Some
Trichorhinophalangeal syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital deformity of sacroiliac joint	Occurrence	False	Congenital	Inferred relationship	Some
Accessory breast	Occurrence	False	Congenital	Inferred relationship	Some
Early urethral obstruction sequence	Occurrence	False	Congenital	Inferred relationship	Some
Congenital duodenal obstruction	Occurrence	False	Congenital	Inferred relationship	Some
Unstable hemoglobin disease	Occurrence	False	Congenital	Inferred relationship	Some
Mikrocefalus	Occurrence	False	Congenital	Inferred relationship	Some
Diastematocrania	Occurrence	False	Congenital	Inferred relationship	Some
Epispadias	Occurrence	False	Congenital	Inferred relationship	Some
Unilateral kongenit macrostomia	Occurrence	False	Congenital	Inferred relationship	Some
Microcolon	Occurrence	False	Congenital	Inferred relationship	Some
Oligomeganephronic hypoplasia of kidney	Occurrence	False	Congenital	Inferred relationship	Some
Incomplete unilateral cleft palate with cleft lip	Occurrence	False	Congenital	Inferred relationship	Some
Kyphosis due to radiation	Occurrence	False	Congenital	Inferred relationship	Some
Congenital stenosis of aortic valve	Occurrence	False	Congenital	Inferred relationship	Some
Accessory nose	Occurrence	False	Congenital	Inferred relationship	Some
Congenital rubella syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital sequestration of lung	Occurrence	False	Congenital	Inferred relationship	Some
Congenital omphalocele	Occurrence	False	Congenital	Inferred relationship	Some
Defective development of cauda equina	Occurrence	False	Congenital	Inferred relationship	Some
Congenital koilonychia	Occurrence	False	Congenital	Inferred relationship	Some
Juvenile GM1 gangliosidosis	Occurrence	False	Congenital	Inferred relationship	Some
Tryptophanuria	Occurrence	False	Congenital	Inferred relationship	Some
H-type congenital tracheoesophageal fistula	Occurrence	False	Congenital	Inferred relationship	Some
Preauricular cyst	Occurrence	False	Congenital	Inferred relationship	Some
Dysplasia of eye	Occurrence	False	Congenital	Inferred relationship	Some
Centrofacial lentiginosis syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Schinzel-Giedion syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Cleft uvula	Occurrence	False	Congenital	Inferred relationship	Some
Niemann-Pick disease, type D	Occurrence	True	Congenital	Inferred relationship	Some	1
Ectopic breast tissue	Occurrence	False	Congenital	Inferred relationship	Some
Ovotestis	Occurrence	False	Congenital	Inferred relationship	Some
Congenital prolapse of urethra	Occurrence	False	Congenital	Inferred relationship	Some
Holt-Oram syndrome is the most common form of heart-hand syndrome with characteristics of skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. The clinical picture of covers a wide spectrum of upper extremity defects, always including the radial ray, and cardiac defects. Caused by a mutation in the TBX5 gene located on the long arm of chromosome 12 (12q24.1).	Occurrence	False	Congenital	Inferred relationship	Some
Syringomyelobulbi	Occurrence	False	Congenital	Inferred relationship	Some
Neurofibromatosis syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Epidermodysplasia verruciformis	Occurrence	False	Congenital	Inferred relationship	Some
Ischiopagus	Occurrence	False	Congenital	Inferred relationship	Some
Congenital syphilitic hepatomegaly	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of urethra	Occurrence	False	Congenital	Inferred relationship	Some
Premature closure of foramen ovale	Occurrence	False	Congenital	Inferred relationship	Some
Osteopetrosis	Occurrence	False	Congenital	Inferred relationship	Some
Congenital cerebral cyst	Occurrence	False	Congenital	Inferred relationship	Some
Clutton's joints	Occurrence	False	Congenital	Inferred relationship	Some
Connective tissue nevus of skin	Occurrence	False	Congenital	Inferred relationship	Some
Ectopic pancreas	Occurrence	False	Congenital	Inferred relationship	Some
makrocefali	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of eye	Occurrence	False	Congenital	Inferred relationship	Some
8p partial monosomy syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Occipital dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Axenfeld's anomaly	Occurrence	False	Congenital	Inferred relationship	Some
Hypertaurodontism	Occurrence	False	Congenital	Inferred relationship	Some
Congenital deficiency of pigment of skin	Occurrence	False	Congenital	Inferred relationship	Some
22q partial monosomy (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Preauricular dimple	Occurrence	False	Congenital	Inferred relationship	Some
Triglyceride storage disease with ichthyosis	Occurrence	True	Congenital	Inferred relationship	Some	2
Longitudinal absence of radius AND ulna	Occurrence	False	Congenital	Inferred relationship	Some
Cutis laxa, acquired type	Occurrence	False	Congenital	Inferred relationship	Some
Cebocephalus	Occurrence	False	Congenital	Inferred relationship	Some
Nodular calcific aortic valve stenosis	Occurrence	False	Congenital	Inferred relationship	Some
Sturge-Weber syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Mibellis porokeratose, plaquetype	Occurrence	False	Congenital	Inferred relationship	Some
Accessory carpal bones	Occurrence	False	Congenital	Inferred relationship	Some
Secondary orotic aciduria	Occurrence	False	Congenital	Inferred relationship	Some
A rare partial duplication of the long arm of chromosome 14 with characteristics of variable clinical features, most commonly including growth retardation and low birth weight, hypotonia, developmental delay, intellectual disability, short stature, microcephaly, facial dysmorphism (frontal bossing, hypertelorism, bulbous nose, micrognathia, sparse hair and eyebrows), congenital heart defects, spasticity and hyperreflexia.	Occurrence	False	Congenital	Inferred relationship	Some
Congenital entropion	Occurrence	False	Congenital	Inferred relationship	Some
Calcaneonavicular bar	Occurrence	False	Congenital	Inferred relationship	Some
Torsion of accessory fallopian tube	Occurrence	False	Congenital	Inferred relationship	Some
Dominant congenital ichthyosiform erythroderma	Occurrence	False	Congenital	Inferred relationship	Some
Pott's curvature	Occurrence	False	Congenital	Inferred relationship	Some
Komplet unilateral ganespalte	Occurrence	False	Congenital	Inferred relationship	Some

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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)