FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

255399007: Congenital (qualifier value)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

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
Sponastrime dysplasia Occurrence True Congenital Inferred relationship Some 1
Congenital stricture of anus with fistula Occurrence True Congenital Inferred relationship Some 1
Partial defect of atrioventricular canal Occurrence True Congenital Inferred relationship Some 1
Stuve-Wiedemann dysplasia Occurrence True Congenital Inferred relationship Some 1
Camptodactyly-little finger Occurrence True Congenital Inferred relationship Some 1
Dermodental dysplasia Occurrence True Congenital Inferred relationship Some 1
Congenital atresia and stenosis of ureter Occurrence True Congenital Inferred relationship Some 1
Aase Smith type 1 syndrome Occurrence True Congenital Inferred relationship Some 7
Aase Smith type 1 syndrome Occurrence True Congenital Inferred relationship Some 5
Aase Smith type 1 syndrome Occurrence True Congenital Inferred relationship Some 2
Aase Smith type 1 syndrome Occurrence True Congenital Inferred relationship Some 4
Aase Smith type 1 syndrome Occurrence True Congenital Inferred relationship Some 3
Microcephaly cleft palate syndrome Occurrence True Congenital Inferred relationship Some 2
Liver hyperplasia Occurrence True Congenital Inferred relationship Some 1
Fibrous skin tumour of tuberous sclerosis Occurrence True Congenital Inferred relationship Some 2
Fine Lubinsky syndrome Occurrence True Congenital Inferred relationship Some 1
Fine Lubinsky syndrome Occurrence True Congenital Inferred relationship Some 2
Peripheral arteriovenous malformation Occurrence True Congenital Inferred relationship Some 1
Brachydactyly with syndactyly Zhao type Occurrence True Congenital Inferred relationship Some 1
Ectopia lentis, chorioretinal dystrophy, myopia syndrome Occurrence True Congenital Inferred relationship Some 1
Camptomelic dysplasia Occurrence True Congenital Inferred relationship Some 3
Camptomelic dysplasia Occurrence True Congenital Inferred relationship Some 1
Camptomelic dysplasia Occurrence True Congenital Inferred relationship Some 2
Duplication cyst of oesophagus Occurrence True Congenital Inferred relationship Some 1
Dysmorphism, pectus carinatum, joint laxity syndrome Occurrence True Congenital Inferred relationship Some 2
Dysmorphism, pectus carinatum, joint laxity syndrome Occurrence True Congenital Inferred relationship Some 1
Dysmorphism, pectus carinatum, joint laxity syndrome Occurrence True Congenital Inferred relationship Some 3
Dysmorphism, pectus carinatum, joint laxity syndrome Occurrence True Congenital Inferred relationship Some 4
Endosteal hyperostoses Occurrence True Congenital Inferred relationship Some 1
Concrescence of teeth Occurrence False Congenital Inferred relationship Some 1
Lymphoedema and cerebral arteriovenous anomaly syndrome Occurrence True Congenital Inferred relationship Some 1
Dextrotransposition of aorta Occurrence True Congenital Inferred relationship Some 1
Familial penile hypospadias Occurrence True Congenital Inferred relationship Some 1
Pontocerebellar hypoplasia type 3 Occurrence True Congenital Inferred relationship Some 1
Bilateral renal hypoplasia Occurrence True Congenital Inferred relationship Some 1
Pulmonary venous confluence remote from left atrium Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of exoccipital bone Occurrence True Congenital Inferred relationship Some 1
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 2
Porokeratosis of Mibelli, superficial disseminated type Occurrence False Congenital Inferred relationship Some 1
Craniometadiaphyseal dysplasia Occurrence True Congenital Inferred relationship Some 1
Retinal cirsoid aneurysm Occurrence False Congenital Inferred relationship Some 2
Congenital muscular dystrophy with arthrogryposis multiplex congenita Occurrence True Congenital Inferred relationship Some 1
Von Hippel-Lindau syndrome Occurrence True Congenital Inferred relationship Some 1
Tricho-onychodental dysplasia Occurrence True Congenital Inferred relationship Some 1
Subaortic infundibulum Occurrence True Congenital Inferred relationship Some 1
Nail-patella syndrome Occurrence True Congenital Inferred relationship Some 3
Nail-patella syndrome Occurrence False Congenital Inferred relationship Some 4
Robinow-like syndrome Occurrence False Congenital Inferred relationship Some 1
Robinow-like syndrome Occurrence False Congenital Inferred relationship Some 2
Robinow-like syndrome Occurrence False Congenital Inferred relationship Some 3
Acephalothorax Occurrence False Congenital Inferred relationship Some 1
Double kidney AND/OR pelvis Occurrence False Congenital Inferred relationship Some 1
Vascular neurocutaneous syndrome Occurrence True Congenital Inferred relationship Some 1
Brachymetapodia of fourth metatarsal Occurrence False Congenital Inferred relationship Some 1
Vascular ring with left aortic arch and right arterial duct arising from retro-oesophageal aortic diverticulum Occurrence True Congenital Inferred relationship Some 1
Periventricular leucomalacia Occurrence False Congenital Inferred relationship Some 1
Congenital anomalies of elbow and upper arm Occurrence True Congenital Inferred relationship Some 1
Mirror-imaged heart Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of vomer Occurrence True Congenital Inferred relationship Some 1
Haspeslagh Fryns Muelenaere syndrome Occurrence True Congenital Inferred relationship Some 1
Haspeslagh Fryns Muelenaere syndrome Occurrence True Congenital Inferred relationship Some 2
Congenital absence of tibia AND fibula Occurrence True Congenital Inferred relationship Some 1
Congenital renal failure Occurrence True Congenital Inferred relationship Some 1
Triphalangeal thumbs with onychodystrophy Occurrence False Congenital Inferred relationship Some 1
Dysplasia of head of femur Meyer type Occurrence True Congenital Inferred relationship Some 1
Lumbar spina bifida without hydrocephalus - open Occurrence True Congenital Inferred relationship Some 2
Partial anomalous pulmonary venous connection of entire right lung Occurrence True Congenital Inferred relationship Some 1
Lethal chondrodysplasia with fragmented bone Occurrence True Congenital Inferred relationship Some 1
Agenesis of right kidney co-occurrent with congenital dysplasia of left kidney Occurrence True Congenital Inferred relationship Some 1
Hunter McAlpine craniosynostosis syndrome Occurrence True Congenital Inferred relationship Some 1
Muscle eye brain disease Occurrence True Congenital Inferred relationship Some 1
Café-au-lait macules with pulmonary stenosis Occurrence True Congenital Inferred relationship Some 1
Triphalangeal thumb with brachyectrodactyly syndrome Occurrence True Congenital Inferred relationship Some 1
Mesoaxial polydactyly of toe Occurrence True Congenital Inferred relationship Some 1
Desmiognathus Occurrence True Congenital Inferred relationship Some 1
Acroscyphodysplasia Occurrence True Congenital Inferred relationship Some 1
Multiple dislocations with dysplasia Occurrence True Congenital Inferred relationship Some 1
Congenital transposition of azygos vein Occurrence True Congenital Inferred relationship Some 1
Aicardi's syndrome Occurrence True Congenital Inferred relationship Some 3
Cake kidney Occurrence True Congenital Inferred relationship Some 1
Splenogonadal fusion, limb defect, micrognathia syndrome Occurrence True Congenital Inferred relationship Some 5
Splenogonadal fusion, limb defect, micrognathia syndrome Occurrence True Congenital Inferred relationship Some 1
Splenogonadal fusion, limb defect, micrognathia syndrome Occurrence True Congenital Inferred relationship Some 2
Splenogonadal fusion, limb defect, micrognathia syndrome Occurrence True Congenital Inferred relationship Some 4
Splenogonadal fusion, limb defect, micrognathia syndrome Occurrence True Congenital Inferred relationship Some 3
Congenital absence of bladder and urethra Occurrence True Congenital Inferred relationship Some 1
Partial anomalous pulmonary venous connection of part of right lung Occurrence True Congenital Inferred relationship Some 1
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type Occurrence True Congenital Inferred relationship Some 3
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type Occurrence True Congenital Inferred relationship Some 2
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type Occurrence True Congenital Inferred relationship Some 1
Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration Occurrence True Congenital Inferred relationship Some 1
Bipartite ossification of supraoccipital bone Occurrence True Congenital Inferred relationship Some 1
Prune belly syndrome Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect with restrictive ventricular component Occurrence True Congenital Inferred relationship Some 1
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Occurrence True Congenital Inferred relationship Some 1
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Occurrence True Congenital Inferred relationship Some 2
Brachymorphism with onychodysplasia and dysphalangism syndrome Occurrence True Congenital Inferred relationship Some 2
Brachymorphism with onychodysplasia and dysphalangism syndrome Occurrence True Congenital Inferred relationship Some 1
Common arterial trunk with obstruction of aortic arch Occurrence True Congenital Inferred relationship Some 1
Lissencephaly with cerebellar hypoplasia type F Occurrence True Congenital Inferred relationship Some 1
Achondrogenesis Occurrence True Congenital Inferred relationship Some 1

Start Previous Page 4 of 329 Next End

Reference Sets

Qualifier value foundation reference set

Back to Start