FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.3  |  FHIR Version n/a  User: [n/a]

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
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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
554801000077113 congénital (valeur de l'attribut) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
congénital est un(e) (attribut) périodes de vie true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital hydrocele of canal of Nuck (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Pendred's syndrome survenue (attribut) False congénital Inferred relationship Some 2
Aneurysm osteoarthritis syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
PGM1-related congenital disorder of glycosylation survenue (attribut) True congénital Inferred relationship Some 1
Bleeding diathesis due to thromboxane synthesis deficiency survenue (attribut) True congénital Inferred relationship Some 2
Chronic granulomatous disease, type II survenue (attribut) True congénital Inferred relationship Some 2
Muscle eye brain disease with bilateral multicystic leukodystrophy survenue (attribut) True congénital Inferred relationship Some 5
Chronic granulomatous disease, type III survenue (attribut) True congénital Inferred relationship Some 2
Autosomal dominant secondary polycythemia (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency survenue (attribut) True congénital Inferred relationship Some 1
syndrome d'anomalie cardiaque, hamartome de la langue, polysyndactylie survenue (attribut) True congénital Inferred relationship Some 4
Osteopathia striata, pigmentary dermopathy, white forelock syndrome survenue (attribut) True congénital Inferred relationship Some 2
Short chain acyl-coenzyme A dehydrogenase deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency survenue (attribut) True congénital Inferred relationship Some 2
Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) survenue (attribut) False congénital Inferred relationship Some 5
Majeed syndrome survenue (attribut) True congénital Inferred relationship Some 3
Chronic granulomatous disease, type IIA survenue (attribut) True congénital Inferred relationship Some 2
Cervical hydromyelocele survenue (attribut) False congénital Inferred relationship Some 2
Lumbar hydromyelocele survenue (attribut) False congénital Inferred relationship Some 2
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency survenue (attribut) True congénital Inferred relationship Some 2
Periodontitis co-occurrent with Chédiak-Higashi syndrome survenue (attribut) False congénital Inferred relationship Some 4
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency survenue (attribut) True congénital Inferred relationship Some 2
Hypopigmentation-immunodeficiency disease survenue (attribut) True congénital Inferred relationship Some 3
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome survenue (attribut) True congénital Inferred relationship Some 3
Lipoyl transferase 1 deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Usher syndrome type 2 survenue (attribut) True congénital Inferred relationship Some 4
Chronic granulomatous disease, type I survenue (attribut) True congénital Inferred relationship Some 2
Thoracic hydromyelocele survenue (attribut) False congénital Inferred relationship Some 2
Congenital arthrogryposis due to teratogen survenue (attribut) True congénital Inferred relationship Some 1
Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Chronic granulomatous disease, type IV survenue (attribut) True congénital Inferred relationship Some 2
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Pseudovaginal perineoscrotal hypospadias survenue (attribut) True congénital Inferred relationship Some 2
Autosomal recessive cutis laxa type 2A (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Brachydactylous dwarfism Mseleni type survenue (attribut) True congénital Inferred relationship Some 2
Albinism with deafness syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
syndrome associant rétinite pigmentaire et surdité survenue (attribut) True congénital Inferred relationship Some 4
Usher syndrome type 1 survenue (attribut) True congénital Inferred relationship Some 4
Chronic granulomatous disease, type IA survenue (attribut) True congénital Inferred relationship Some 2
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome survenue (attribut) True congénital Inferred relationship Some 2
Menkes kinky-hair syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 4
Arthrogryposis and ectodermal dysplasia syndrome survenue (attribut) True congénital Inferred relationship Some 1
Chronic granulomatous disease, type IVA survenue (attribut) True congénital Inferred relationship Some 2
Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Osteopetrosis hypogammaglobulinemia syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 3
syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) survenue (attribut) True congénital Inferred relationship Some 7
Retinitis pigmentosa-deafness-ataxia syndrome survenue (attribut) True congénital Inferred relationship Some 4
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Complete congenital duodenal obstruction survenue (attribut) True congénital Inferred relationship Some 1
Hemicephaly survenue (attribut) True congénital Inferred relationship Some 1
spondylolisthésis congénital survenue (attribut) True congénital Inferred relationship Some 1
Femoral hypoplasia - unusual facies syndrome survenue (attribut) True congénital Inferred relationship Some 2
Hereditary elliptocytosis due to glycophorin C deficiency survenue (attribut) True congénital Inferred relationship Some 4
Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type survenue (attribut) True congénital Inferred relationship Some 1
Frontal dysostosis survenue (attribut) True congénital Inferred relationship Some 1
Duplication of teeth survenue (attribut) False congénital Inferred relationship Some 1
Lateral accessory root canals survenue (attribut) False congénital Inferred relationship Some 1
Intrinsic enamel discoloration of erythroblastosis fetalis survenue (attribut) True congénital Inferred relationship Some 1
Amelogenesis imperfecta, hypocalcification type survenue (attribut) True congénital Inferred relationship Some 1
Precocious exfoliation due to ectopic eruption of proximate tooth (disorder) survenue (attribut) False congénital Inferred relationship Some 1
Leprechaunism syndrome survenue (attribut) True congénital Inferred relationship Some 2
Leprechaunism syndrome survenue (attribut) True congénital Inferred relationship Some 3
Congenital cleft of cardiac valve survenue (attribut) True congénital Inferred relationship Some 1
syndrome d'iléus neurogène congénital survenue (attribut) True congénital Inferred relationship Some 1
hydronéphrose congénitale survenue (attribut) False congénital Inferred relationship Some 2
syndrome d'insensibilité partielle aux androgènes survenue (attribut) True congénital Inferred relationship Some 2
syndrome d'insensibilité partielle aux androgènes survenue (attribut) True congénital Inferred relationship Some 1
Talipes valgus of left foot (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Talipes valgus of right foot (disorder) survenue (attribut) True congénital Inferred relationship Some 2
Fibrous dysplasia of bone survenue (attribut) True congénital Inferred relationship Some 1
Congenital pigmented melanocytic nevus of skin of left upper limb survenue (attribut) True congénital Inferred relationship Some 1
Congenital pigmented melanocytic nevus of skin of left lower limb (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital pigmented melanocytic nevus of skin of right upper limb survenue (attribut) True congénital Inferred relationship Some 1
Congenital pigmented melanocytic nevus of skin of right lower limb survenue (attribut) True congénital Inferred relationship Some 1
Monostotic fibrous dysplasia of periradicular alveolar bone survenue (attribut) True congénital Inferred relationship Some 1
Synechia vulvae survenue (attribut) True congénital Inferred relationship Some 1
Congenital absence of left lower limb (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Congenital absence of right lower limb (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Brachydactyly of toes of left foot survenue (attribut) True congénital Inferred relationship Some 1
Bilateral brachydactyly of toes survenue (attribut) True congénital Inferred relationship Some 2
Bilateral brachydactyly of toes survenue (attribut) True congénital Inferred relationship Some 1
Brachydactyly of toes of right foot (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Embryonic cyst of right Gartner's duct (disorder) survenue (attribut) True congénital Inferred relationship Some 1
Embryonic cyst of left Gartner's duct survenue (attribut) True congénital Inferred relationship Some 1
Infantile esotropia of right eye survenue (attribut) False congénital Inferred relationship Some 1
Infantile esotropia of left eye survenue (attribut) False congénital Inferred relationship Some 1
Ehlers-Danlos syndrome, type 2 survenue (attribut) True congénital Inferred relationship Some 1
Single coronary artery survenue (attribut) True congénital Inferred relationship Some 1
Anomalous pulmonary venous drainage to abdominal portion of inferior vena cava survenue (attribut) True congénital Inferred relationship Some 1
Ehlers-Danlos syndrome, type 4 survenue (attribut) True congénital Inferred relationship Some 1
Congenital duodenal obstruction survenue (attribut) True congénital Inferred relationship Some 1
Schinzel-Giedion syndrome survenue (attribut) True congénital Inferred relationship Some 4
Oguchi's disease survenue (attribut) True congénital Inferred relationship Some 1
Hennekam syndrome survenue (attribut) True congénital Inferred relationship Some 4
Hennekam syndrome survenue (attribut) True congénital Inferred relationship Some 3
Hereditary elliptocytosis with transient poikilocytosis survenue (attribut) True congénital Inferred relationship Some 4
Inherited renal tubule insufficiency with cholestatic jaundice survenue (attribut) True congénital Inferred relationship Some 2
Inherited renal tubule insufficiency with cholestatic jaundice survenue (attribut) True congénital Inferred relationship Some 1

Start Previous Page 52 of 326 Next End

This concept is not in any reference sets

Back to Start