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255399007: Congenital (qualifier value)

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

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Entire term case insensitive SNOMED CT core module
380599019 Congenita en Synonym Active Entire term case insensitive SNOMED CT core module
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

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

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