255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\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	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Disorder of fatty acid metabolism	Occurrence	True	Congenital	Inferred relationship	Some	1
Cornea globular	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of right pulmonary artery	Occurrence	False	Congenital	Inferred relationship	Some
Congenital hyperplasia of intrahepatic bile duct	Occurrence	False	Congenital	Inferred relationship	Some
Infantile malignant osteopetrosis	Occurrence	False	Congenital	Inferred relationship	Some
missbildat foster med kranieanomalier	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of neck	Occurrence	False	Congenital	Inferred relationship	Some
makrokolon	Occurrence	False	Congenital	Inferred relationship	Some
Spina bifida without hydrocephalus	Occurrence	False	Congenital	Inferred relationship	Some	5
Papillon-Lefèvre syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital macrostomia	Occurrence	False	Congenital	Inferred relationship	Some
glykogeninlagringssjukdom typ 9	Occurrence	False	Congenital	Inferred relationship	Some
Single vessel of umbilical cord	Occurrence	False	Congenital	Inferred relationship	Some
Chronic granulomatous disease, type IA	Occurrence	False	Congenital	Inferred relationship	Some
Floating liver	Occurrence	False	Congenital	Inferred relationship	Some
Polydactyly (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of coronary sinus	Occurrence	False	Congenital	Inferred relationship	Some
Gemination of teeth	Occurrence	False	Congenital	Inferred relationship	Some
Mietens syndrome	Occurrence	False	Congenital	Inferred relationship	Some
4-Hydroxyphenylpyruvate dioxygenase deficiency	Occurrence	False	Congenital	Inferred relationship	Some
Annular pancreas	Occurrence	False	Congenital	Inferred relationship	Some
Double auditory canal	Occurrence	False	Congenital	Inferred relationship	Some
De Lange syndrome	Occurrence	False	Congenital	Inferred relationship	Some
12q partial trisomy syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Incontinentia pigmenti syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of macula	Occurrence	False	Congenital	Inferred relationship	Some
Mongolian spot	Occurrence	False	Congenital	Inferred relationship	Some
Fanconi syndrome	Occurrence	False	Congenital	Inferred relationship	Some
medfödd spondyloepifyseal dysplasi	Occurrence	False	Congenital	Inferred relationship	Some
Gyrate atrophy of the choroid AND/OR retina (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of vein	Occurrence	False	Congenital	Inferred relationship	Some
medfödd avsaknad av underarm med hand och fingrar	Occurrence	False	Congenital	Inferred relationship	Some
pseudokryptorkism	Occurrence	False	Congenital	Inferred relationship	Some
Congenital hepatomegaly	Occurrence	False	Congenital	Inferred relationship	Some
Persistent hyperphenylalaninemia AND tyrosinemia	Occurrence	True	Congenital	Inferred relationship	Some	1
Metachromatic leukodystrophy, congenital type	Occurrence	False	Congenital	Inferred relationship	Some
Sulfite oxidase deficiency syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anomaly of the hematopoietic system	Occurrence	False	Congenital	Inferred relationship	Some
Nevus anemicus	Occurrence	False	Congenital	Inferred relationship	Some
Primary hyperoxaluria, type II	Occurrence	True	Congenital	Inferred relationship	Some	1
Argininosuccinate lyase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
omfaloflebit	Occurrence	False	Congenital	Inferred relationship	Some
Complete trisomy 21 syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Holoacardius amorphus	Occurrence	False	Congenital	Inferred relationship	Some
Pre-eruptive color change of tooth	Occurrence	False	Congenital	Inferred relationship	Some
Langer-Giedion syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Dicephalus tripus tribrachius	Occurrence	False	Congenital	Inferred relationship	Some
Globoid cell leukodystrophy, late-onset	Occurrence	True	Congenital	Inferred relationship	Some	3
Supernumerary external ear	Occurrence	False	Congenital	Inferred relationship	Some
Congenital abnormality of uterus, affecting pregnancy	Occurrence	False	Congenital	Inferred relationship	Some
Congenital esophagobronchial fistula	Occurrence	False	Congenital	Inferred relationship	Some
Cerebro-oculo-facio-skeletal syndrome (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Conjoined twins	Occurrence	False	Congenital	Inferred relationship	Some
11p partial monosomy syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Macrodactyly of toe (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
medfödda anomalier hos foster	Occurrence	False	Congenital	Inferred relationship	Some
Multiple malformation syndrome with limb defect as major feature	Occurrence	False	Congenital	Inferred relationship	Some
Uterus acollis	Occurrence	False	Congenital	Inferred relationship	Some
Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Disseminated superficial actinic porokeratosis	Occurrence	False	Congenital	Inferred relationship	Some
Congenital supravalvular mitral stenosis	Occurrence	False	Congenital	Inferred relationship	Some
Congenital hypertrophy of sphenoid bone	Occurrence	False	Congenital	Inferred relationship	Some
Glycogen storage disease type VIII	Occurrence	True	Congenital	Inferred relationship	Some	1
Hyperimmunoglobulin E syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Mucopolysaccharidosis, MPS-III-A	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital anomaly of upper respiratory system	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of lacrimal gland	Occurrence	False	Congenital	Inferred relationship	Some
Leri's pleonosteosis syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Ehlers-Danlos syndrom, prokollagenproteinasresistent	Occurrence	False	Congenital	Inferred relationship	Some
Horseshoe kidney	Occurrence	False	Congenital	Inferred relationship	Some
5,10-Methylenetetrahydrofolate reductase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital absence of foot	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of endocrine gland	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of genital organ	Occurrence	False	Congenital	Inferred relationship	Some
Symbrachydactyly	Occurrence	False	Congenital	Inferred relationship	Some
Left ventricular-right atrial communication	Occurrence	False	Congenital	Inferred relationship	Some
Longitudinal deficiency of carpal bone	Occurrence	False	Congenital	Inferred relationship	Some
Digital fibromatosis	Occurrence	False	Congenital	Inferred relationship	Some
skafocefali	Occurrence	False	Congenital	Inferred relationship	Some
Paraumbilical hernia with gangrene AND obstruction	Occurrence	False	Congenital	Inferred relationship	Some
Congenital duplication of anus	Occurrence	False	Congenital	Inferred relationship	Some
Oligohydramnios sequence	Occurrence	False	Congenital	Inferred relationship	Some
18p partial trisomy syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Neuronal ceroid lipofuscinosis	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital fusion of kidneys	Occurrence	False	Congenital	Inferred relationship	Some
Congenital varus deformity of foot	Occurrence	False	Congenital	Inferred relationship	Some
Pseudohypoparathyroidism type II	Occurrence	False	Congenital	Inferred relationship	Some
Congenital absence of abdominal muscle	Occurrence	False	Congenital	Inferred relationship	Some
Cochleate uterus	Occurrence	False	Congenital	Inferred relationship	Some
Eruption cyst of jaw (disorder)	Occurrence	False	Congenital	Inferred relationship	Some
Congenital duplication of cecum	Occurrence	False	Congenital	Inferred relationship	Some
Occipital encephalocele	Occurrence	False	Congenital	Inferred relationship	Some
Methylmalonic acidemia	Occurrence	False	Congenital	Inferred relationship	Some
Kartagener syndrome	Occurrence	False	Congenital	Inferred relationship	Some
18q partial monosomy syndrome	Occurrence	False	Congenital	Inferred relationship	Some
Juvenile neurosyphilis	Occurrence	False	Congenital	Inferred relationship	Some
Oto-palato-digital syndrome, type II	Occurrence	False	Congenital	Inferred relationship	Some
HNSHA due to hexokinase deficiency	Occurrence	True	Congenital	Inferred relationship	Some	4
Cystinuria, type 3	Occurrence	False	Congenital	Inferred relationship	Some
Xeroderma pigmentosum, group F	Occurrence	False	Congenital	Inferred relationship	Some
Familial type 3 hyperlipoproteinemia	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
135131000052119	medfödd	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)