FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  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
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
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life false Inferred relationship Some
Congenital Is a Fetal and/or neonatal period true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
7q partial trisomy (disorder) Occurrence False Congenital Inferred relationship Some
Congenital coxa valga Occurrence False Congenital Inferred relationship Some
Hereditary spherocytosis due to deficiency of protein 4.2 Occurrence False Congenital Inferred relationship Some
Nievergelt's syndrome Occurrence False Congenital Inferred relationship Some
Hyperornithinemia Occurrence False Congenital Inferred relationship Some
Ectopic parotid gland tissue Occurrence False Congenital Inferred relationship Some
Syndactyly of fingers Occurrence False Congenital Inferred relationship Some
Congenital anomaly of hand (disorder) Occurrence False Congenital Inferred relationship Some
Fraser syndrome Occurrence False Congenital Inferred relationship Some
Congenital perforation of wall of nasal sinus Occurrence False Congenital Inferred relationship Some
Familial type 5 hyperlipoproteinemia Occurrence False Congenital Inferred relationship Some
Patent urachus Occurrence False Congenital Inferred relationship Some
Severe combined immunodeficiency due to absent peripheral T cell maturation (disorder) Occurrence True Congenital Inferred relationship Some 2
Storage disease Occurrence True Congenital Inferred relationship Some 1
Congenital duplication of vagina Occurrence False Congenital Inferred relationship Some
Dimelia Occurrence False Congenital Inferred relationship Some
Mandibular retrognathism Occurrence False Congenital Inferred relationship Some
Familial hypertriglyceridemia Occurrence False Congenital Inferred relationship Some
Sialic acid storage disease, severe infantile type Occurrence False Congenital Inferred relationship Some
Congenital anomaly of upper alimentary tract Occurrence False Congenital Inferred relationship Some
Pelvis justo major Occurrence False Congenital Inferred relationship Some
érythrokératodermie, trichorrhexie noueuse et dermatite atopique Occurrence False Congenital Inferred relationship Some
Camurati-Engelmann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterised by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Occurrence False Congenital Inferred relationship Some
MVRCS association Occurrence False Congenital Inferred relationship Some
Adams-Oliver syndrome Occurrence False Congenital Inferred relationship Some
Congenital absence of bronchus Occurrence False Congenital Inferred relationship Some
Congenital stenosis of choanae Occurrence False Congenital Inferred relationship Some
G-6-PD class II variant anemia Occurrence True Congenital Inferred relationship Some 4
Congenital hypoplasia of penis Occurrence False Congenital Inferred relationship Some
Megaloblastic anemia due to inborn errors of metabolism Occurrence True Congenital Inferred relationship Some 3
Normosomatic sialidosis Occurrence False Congenital Inferred relationship Some
Hanhart's syndrome Occurrence False Congenital Inferred relationship Some
Microtia Occurrence False Congenital Inferred relationship Some
Osteogenesis imperfecta with blue sclerae Occurrence False Congenital Inferred relationship Some
Cervical thymic remnant Occurrence False Congenital Inferred relationship Some
Scrapie Occurrence False Congenital Inferred relationship Some
Trisomy X syndrome Occurrence False Congenital Inferred relationship Some
Hypoplasia of cementum Occurrence False Congenital Inferred relationship Some
Anomalous communication of coronary artery Occurrence False Congenital Inferred relationship Some
Congenital duplication of appendix Occurrence False Congenital Inferred relationship Some
Microphakia Occurrence False Congenital Inferred relationship Some
Congenital aphakia Occurrence False Congenital Inferred relationship Some
Aplasia cutis congenita (disorder) Occurrence False Congenital Inferred relationship Some
Nager syndrome Occurrence False Congenital Inferred relationship Some
Polyotia Occurrence False Congenital Inferred relationship Some
Accessory trachea Occurrence False Congenital Inferred relationship Some
Acquired diverticulum of esophagus Occurrence False Congenital Inferred relationship Some
Holoacardius acephalus Occurrence False Congenital Inferred relationship Some
Open bite Occurrence False Congenital Inferred relationship Some
Diastema of teeth Occurrence False Congenital Inferred relationship Some
Deradelphus Occurrence False Congenital Inferred relationship Some
Persistent fetal circulation syndrome Occurrence False Congenital Inferred relationship Some
Abnormal communication between pericardial sac and pleura Occurrence False Congenital Inferred relationship Some
A lysosomal storage disease with characteristics of coarse facial features, macular cherry red spot, and dysostosis multiplex. Clinical presentation can be heterogeneous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form. Occurrence False Congenital Inferred relationship Some
Congenital syphilis Occurrence False Congenital Inferred relationship Some
Ribose-phosphate pyrophosphokinase overactivity Occurrence False Congenital Inferred relationship Some
Megaloblastic anemia due to error of folate metabolism Occurrence True Congenital Inferred relationship Some 3
Infantile uterus Occurrence False Congenital Inferred relationship Some
Hyperuricemia Occurrence False Congenital Inferred relationship Some
Aminoaciduria (finding) Occurrence False Congenital Inferred relationship Some
Naevus comedonicus Occurrence False Congenital Inferred relationship Some
Congenital anomaly of nail Occurrence False Congenital Inferred relationship Some
Congenital cerebral meningocele Occurrence False Congenital Inferred relationship Some
Fibrous skin tumor of tuberous sclerosis Occurrence False Congenital Inferred relationship Some
Wiskott-Aldrich syndrome Occurrence True Congenital Inferred relationship Some 2
Double cardiac valve orifice Occurrence False Congenital Inferred relationship Some
Congenital anomaly of pulmonary artery Occurrence False Congenital Inferred relationship Some
Sex phenotype-karyotype dissociation syndrome Occurrence False Congenital Inferred relationship Some
Abnormal position of cardiac valve Occurrence False Congenital Inferred relationship Some
Congenital immunodeficiency disease Occurrence True Congenital Inferred relationship Some 1
Congenital subluxation of hip Occurrence False Congenital Inferred relationship Some
Thalidomide embryopathy syndrome Occurrence False Congenital Inferred relationship Some
Congenital stenosis of tricuspid valve Occurrence False Congenital Inferred relationship Some
Septate vagina affecting pregnancy Occurrence False Congenital Inferred relationship Some
Dolichopellic pelvis Occurrence False Congenital Inferred relationship Some
1p partial monosomy Occurrence False Congenital Inferred relationship Some
Congenital absence of esophagus Occurrence False Congenital Inferred relationship Some
Transposition of pulmonary veins Occurrence False Congenital Inferred relationship Some
Disorder of the urea cycle metabolism Occurrence False Congenital Inferred relationship Some
Xeroderma pigmentosum, group G Occurrence False Congenital Inferred relationship Some
Congenital absence of liver Occurrence False Congenital Inferred relationship Some
Polyostotic fibrous dysplasia of bone Occurrence False Congenital Inferred relationship Some
Transverse deficiency of lower limb Occurrence False Congenital Inferred relationship Some
Lethal glossopharyngeal defect Occurrence False Congenital Inferred relationship Some
Craniometaphyseal dysplasia Occurrence False Congenital Inferred relationship Some
16q partial monosomy syndrome Occurrence False Congenital Inferred relationship Some
Congenital duplication of cystic duct Occurrence False Congenital Inferred relationship Some
Hepatomphalocele Occurrence False Congenital Inferred relationship Some
Congenital notching of tip of nose Occurrence False Congenital Inferred relationship Some
False knot of umbilical cord Occurrence False Congenital Inferred relationship Some
Acraniate monster Occurrence False Congenital Inferred relationship Some
Congenital splenomegaly Occurrence False Congenital Inferred relationship Some
Displaced ureteric orifice Occurrence False Congenital Inferred relationship Some
Glutamate-cysteine ligase deficiency Occurrence True Congenital Inferred relationship Some 1
Monocephalus tripus dibrachius Occurrence False Congenital Inferred relationship Some
embryopathie causée par l'acide rétinoïque Occurrence False Congenital Inferred relationship Some
Hartnup disorder, renal/jejunal type Occurrence False Congenital Inferred relationship Some
Severe combined immunodeficiency due to absent adenosine deaminase (disorder) Occurrence True Congenital Inferred relationship Some 2
Transverse deficiency of upper limb Occurrence False Congenital Inferred relationship Some
tabès juvénile Occurrence False Congenital Inferred relationship Some
Congenital anomaly of anterior chamber of eye Occurrence False Congenital Inferred relationship Some

Start Previous Page 32 of 344 Next End

This concept is not in any reference sets

Back to Start