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255399007: Congenital (qualifier value)


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

Descriptions:

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
7178481000172112 aangeboren nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
7178491000172110 congenitaal nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

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 False 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 False Congenital Inferred relationship Some 4
Keratitis ichthyosis and deafness syndrome (disorder) Occurrence False Congenital Inferred relationship Some 4
Keratitis ichthyosis and deafness syndrome (disorder) 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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