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
Aberrant insertion of frenum of tongue Occurrence False Congenital Inferred relationship Some
Congenital anomaly of uvula Occurrence False Congenital Inferred relationship Some
Riedel's lobe of liver Occurrence False Congenital Inferred relationship Some
Cystic testicular dysplasia (disorder) Occurrence False Congenital Inferred relationship Some
Cerebrofacial dysplasia Occurrence False Congenital Inferred relationship Some
Residual cyst (disorder) Occurrence False Congenital Inferred relationship Some
perte secondaire de la longueur de l'arcade dentaire Occurrence False Congenital Inferred relationship Some
perte en longueur de l'arcade dentaire causée par l'absence congénitale de dents Occurrence False Congenital Inferred relationship Some
perte en longueur de l'arcade dentaire à la suite de la perte de dents primaires Occurrence False Congenital Inferred relationship Some
perte en longueur de l'arcade dentaire à la suite de la perte de dents permanentes Occurrence False Congenital Inferred relationship Some
perte en longueur de l'arcade dentaire à la suite de caries dentaires Occurrence False Congenital Inferred relationship Some
Excessive dental arch length (disorder) Occurrence False Congenital Inferred relationship Some
21q partial distal trisomy (disorder) Occurrence False Congenital Inferred relationship Some
21q partial trisomy (disorder) Occurrence False Congenital Inferred relationship Some
Talipes equinus Occurrence False Congenital Inferred relationship Some
Acquired myelocele Occurrence False Congenital Inferred relationship Some
Internal malleolar torsion Occurrence False Congenital Inferred relationship Some
External malleolar torsion Occurrence False Congenital Inferred relationship Some
Congenital forefoot varus Occurrence False Congenital Inferred relationship Some
Congenital rearfoot varus (disorder) Occurrence False Congenital Inferred relationship Some
Late congenital syphilitic meningitis Occurrence False Congenital Inferred relationship Some
A paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia. The prevalence is unknown. Onset usually occurs during infancy or early childhood. The dystonic movements are characterised by abnormal posturing of the head and neck (torticollis) and severe arching of the spine. The dystonic movements are clearly associated with gastro-oesophageal reflux but the pathophysiological mechanism is not clearly understood. Occurrence False Congenital Inferred relationship Some
Neuroaxonal leukodystrophy (disorder) Occurrence False Congenital Inferred relationship Some
Type III transitional Pelizaeus-Merzbacher disease Occurrence False Congenital Inferred relationship Some 4
Type IV adult Pelizaeus-Merzbacher disease Occurrence False Congenital Inferred relationship Some 4
Type V atypical Pelizaeus-Merzbacher disease Occurrence False Congenital Inferred relationship Some 4
Type VI Cockayne Pelizaeus-Merzbacher disease Occurrence False Congenital Inferred relationship Some 4
A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy. Occurrence False Congenital Inferred relationship Some
Familial febrile convulsions Occurrence False Congenital Inferred relationship Some
Congenital anosmia Occurrence False Congenital Inferred relationship Some
Tilted optic disc Occurrence False Congenital Inferred relationship Some
Pit of optic disc Occurrence False Congenital Inferred relationship Some
Myelinated nerve fibers of optic disc Occurrence False Congenital Inferred relationship Some
Congenital disorders of eye and eyelid movements Occurrence False Congenital Inferred relationship Some
Congenital failure of eye elevation Occurrence False Congenital Inferred relationship Some
Congenital nuclear ophthalmoplegia Occurrence False Congenital Inferred relationship Some
Congenital disorder of facial nerve Occurrence False Congenital Inferred relationship Some
Congenital facial nerve palsy Occurrence False Congenital Inferred relationship Some
Congenital polyneuropathy Occurrence False Congenital Inferred relationship Some 2
Congenital neuropathy with arthrogryposis multiplex congenita Occurrence False Congenital Inferred relationship Some
Congenital hypomyelinating neuropathy Occurrence False Congenital Inferred relationship Some
Late congenital syphilitic polyneuropathy Occurrence False Congenital Inferred relationship Some
Infantile botulism Occurrence False Congenital Inferred relationship Some
Late secondary abnormalities of the central nervous system Occurrence False Congenital Inferred relationship Some
Multicystic encephalomalacia Occurrence False Congenital Inferred relationship Some
Periventricular leucomalacia Occurrence False Congenital Inferred relationship Some
Congenital pseudobulbar palsy Occurrence False Congenital Inferred relationship Some
Congenital dysphasia Occurrence False Congenital Inferred relationship Some
Congenital expressive dysphasia Occurrence False Congenital Inferred relationship Some
Congenital receptive dysphasia Occurrence False Congenital Inferred relationship Some
Congenital talipes calcaneus Occurrence False Congenital Inferred relationship Some
Acquired anophthalmos Occurrence False Congenital Inferred relationship Some
Lattice corneal dystrophy, isolated form Occurrence False Congenital Inferred relationship Some
Traumatic aniridia Occurrence False Congenital Inferred relationship Some
Laurence-Moon syndrome Occurrence False Congenital Inferred relationship Some
General fibrosis syndrome Occurrence False Congenital Inferred relationship Some
Congenital deformity of pinna Occurrence False Congenital Inferred relationship Some
Congenital cholesteatoma Occurrence False Congenital Inferred relationship Some
Structural anomaly of the cochlea and vestibular labyrinth Occurrence False Congenital Inferred relationship Some
Aplasia of the cochlea and vestibular labyrinth Occurrence False Congenital Inferred relationship Some
Congenital deformity of labyrinth Occurrence False Congenital Inferred relationship Some
Incomplete formation of bony cochlea Occurrence False Congenital Inferred relationship Some
Mondini defect Occurrence False Congenital Inferred relationship Some
Dilatation of the vestibular aqueduct Occurrence False Congenital Inferred relationship Some
Absence of semicircular canal Occurrence False Congenital Inferred relationship Some
Dilatation of semicircular canal Occurrence False Congenital Inferred relationship Some
An extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. The condition is most probably hereditary, transmitted as an autosomal dominant trait. Occurrence False Congenital Inferred relationship Some
Choanal atresia with coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association Occurrence False Congenital Inferred relationship Some
Agenesis of nasal cartilages Occurrence False Congenital Inferred relationship Some
Nasal dermoid Occurrence False Congenital Inferred relationship Some
Median nasal dermoid fistula Occurrence False Congenital Inferred relationship Some
Bifid epiglottis Occurrence False Congenital Inferred relationship Some
Congenital laryngeal abductor palsy Occurrence False Congenital Inferred relationship Some
Congenital laryngeal adductor palsy (disorder) Occurrence False Congenital Inferred relationship Some
Congenital cleft larynx Occurrence False Congenital Inferred relationship Some
Congenital cystic bronchiectasis Occurrence False Congenital Inferred relationship Some
Primary ciliary dyskinesia due to transposition of ciliary microtubules Occurrence False Congenital Inferred relationship Some
Immotile cilia syndrome due to defective radial spokes Occurrence False Congenital Inferred relationship Some
Immotile cilia syndrome due to excessively long cilia Occurrence False Congenital Inferred relationship Some
Young's syndrome Occurrence False Congenital Inferred relationship Some
Rutland ciliary disorientation syndrome Occurrence False Congenital Inferred relationship Some
Pulmonary tuberous sclerosis (disorder) Occurrence False Congenital Inferred relationship Some
Pulmonary lipid storage disease Occurrence True Congenital Inferred relationship Some 1
Congenital tracheal fistula Occurrence False Congenital Inferred relationship Some
Infected bronchogenic cyst Occurrence False Congenital Inferred relationship Some
Post-infarction ventricular septal defect Occurrence False Congenital Inferred relationship Some
Calcific aortic stenosis - bicuspid valve Occurrence False Congenital Inferred relationship Some
Ductus arteriosus aneurysm Occurrence False Congenital Inferred relationship Some
Capillary malformation Occurrence False Congenital Inferred relationship Some
Arterial malformation Occurrence False Congenital Inferred relationship Some
Hypoplasia of artery Occurrence False Congenital Inferred relationship Some
Persistence of primitive artery Occurrence False Congenital Inferred relationship Some
Persistent cerebral embryonic artery Occurrence False Congenital Inferred relationship Some
Venous malformation Occurrence False Congenital Inferred relationship Some
Venous valvular anomaly Occurrence False Congenital Inferred relationship Some
Deep vein aplasia Occurrence False Congenital Inferred relationship Some
Deep vein hypoplasia Occurrence False Congenital Inferred relationship Some
Ectactic vein Occurrence False Congenital Inferred relationship Some
True congenital varicose veins Occurrence False Congenital Inferred relationship Some
Spongy venous malformation Occurrence False Congenital Inferred relationship Some
Splenoportal vascular anomaly Occurrence False Congenital Inferred relationship Some

Start Previous Page 6 of 344 Next End

This concept is not in any reference sets

Back to Start