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
Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Corrected transposition of great vessels	Occurrence	True	Congenital	Inferred relationship	Some	1
Hemianencephaly	Occurrence	True	Congenital	Inferred relationship	Some	1
Macromelia	Occurrence	True	Congenital	Inferred relationship	Some	1
Dumbbell-shaped cartilaginous centrum of thoracic vertebra	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital tracheomalacia	Occurrence	True	Congenital	Inferred relationship	Some	1
Ectopic cilia of eyelid	Occurrence	True	Congenital	Inferred relationship	Some	1
Periventricular nodular heterotopia	Occurrence	True	Congenital	Inferred relationship	Some	1
Aplasia of corpus callosum	Occurrence	True	Congenital	Inferred relationship	Some	1
Spina bifida of sacral region (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Sacral spina bifida without hydrocephalus - closed	Occurrence	True	Congenital	Inferred relationship	Some	1
11p partial monosomy syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Chromosome 11p13 deletion syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Juvenile GM1 gangliosidosis	Occurrence	True	Congenital	Inferred relationship	Some	3
Adult GM1 gangliosidosis	Occurrence	True	Congenital	Inferred relationship	Some	3
Congenital cutaneous lymphangiectasia	Occurrence	True	Congenital	Inferred relationship	Some	2
Aganglionosis of large intestine (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Pulmonary tuberous sclerosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Meningomyelocele of lumbosacral spine (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Meningomyelocele of lumbosacral spine (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Congenital absence of body of uterus (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital respiratory biliary fistula	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital respiratory biliary fistula	Occurrence	True	Congenital	Inferred relationship	Some	2
Trichorhinophalangeal syndrome type 1 and 3	Occurrence	True	Congenital	Inferred relationship	Some	1
Trichorhinophalangeal syndrome type 1 and 3	Occurrence	True	Congenital	Inferred relationship	Some	2
Posterior hypospadias	Occurrence	True	Congenital	Inferred relationship	Some	1
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Generalized glucocorticoid resistance syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital arteriovenous malformation of duodenum (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Epidermolysis bullosa simplex with hypodontia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Eisenmenger ventricular septal defect (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Mosaic trisomy 1 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Mosaic trisomy 1 syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Farber's lipogranulomatosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital Fanconi syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Progressive deafness with stapes fixation (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Hereditary camptodactyly	Occurrence	True	Congenital	Inferred relationship	Some	1
Fabry's disease	Occurrence	False	Congenital	Inferred relationship	Some	1
Melnick-Fraser syndrome	Occurrence	True	Congenital	Inferred relationship	Some	5
Pulmonic stenosis and congenital nephrosis	Occurrence	True	Congenital	Inferred relationship	Some	2
Senter syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Keratitis ichthyosis and deafness syndrome	Occurrence	True	Congenital	Inferred relationship	Some	4
Keratitis ichthyosis and deafness syndrome	Occurrence	True	Congenital	Inferred relationship	Some	5
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Craniofacial deafness hand syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Craniofacial deafness hand syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Craniofacial deafness hand syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Emberger syndrome	Occurrence	False	Congenital	Inferred relationship	Some	1
Myhre syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia	Occurrence	True	Congenital	Inferred relationship	Some	6
X-linked non progressive cerebellar ataxia (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Pseudohypoparathyroidism type I A	Occurrence	True	Congenital	Inferred relationship	Some	3
Beckwith-Wiedemann syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Fibrous skin tumor of tuberous sclerosis	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital absence of skin on scalp	Occurrence	True	Congenital	Inferred relationship	Some	2
Barber-Say syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Barber-Say syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	3
Barber-Say syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	4
Barber-Say syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	5
Agenesis of bilateral lungs	Occurrence	True	Congenital	Inferred relationship	Some	1
Agenesis of bilateral lungs	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital generalized hypertrichosis (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
MASA syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
MASA syndrome	Occurrence	True	Congenital	Inferred relationship	Some	2
MASA syndrome	Occurrence	True	Congenital	Inferred relationship	Some	3
Microcephalus with albinism and digital anomaly syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	6
Aplasia cutis congenita of limb (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
46,XY disorder of sex development due to maternal ingestion of progestogen (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Basal encephalocele (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Basal encephalocele (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
46 XY disorder of sex development due to maternal ingestion of estrogen (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
46,XX disorder of sex development due to maternal Krukenberg neoplasm (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
46,XX disorder of sex development due to maternal adrenal neoplasm (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Atresia of mitral valve with absent atrioventricular connection	Occurrence	True	Congenital	Inferred relationship	Some	1
Atresia of mitral valve with absent atrioventricular connection	Occurrence	True	Congenital	Inferred relationship	Some	2
Ablepharon of bilateral eyelids (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Ablepharon of bilateral eyelids (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
46,XX disorder of sex development due to maternal androluteoma (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
46,XX disorder of sex development due to maternal arrhenoblastoma (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Jervell and Lange-Nielsen syndrome	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital parachute malformation of right atrioventricular valve (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital parachute malformation of right atrioventricular valve (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Constriction ring syndrome of lower limb with amputation	Occurrence	True	Congenital	Inferred relationship	Some	3
Constriction ring syndrome (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Blue sclera of bilateral eyes	Occurrence	True	Congenital	Inferred relationship	Some	1
Blue sclera of bilateral eyes	Occurrence	True	Congenital	Inferred relationship	Some	2
Clinodactyly of bilateral toes (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Clinodactyly of bilateral toes (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Bilateral coloboma of macula	Occurrence	True	Congenital	Inferred relationship	Some	1
Bilateral coloboma of macula	Occurrence	True	Congenital	Inferred relationship	Some	2
Bilateral coloboma of lens	Occurrence	True	Congenital	Inferred relationship	Some	1
Bilateral coloboma of lens	Occurrence	True	Congenital	Inferred relationship	Some	2
Developmental anomaly of bilateral pleurae (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1
Developmental anomaly of bilateral pleurae (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	2
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency non classic form	Occurrence	True	Congenital	Inferred relationship	Some	1
Congenital lipoid adrenal hyperplasia due to steroidogenic acute regulatory protein deficiency classic form (disorder)	Occurrence	True	Congenital	Inferred relationship	Some	1

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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)