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276655000: Congenital deformity (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
412906014 Congenital deformity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
669596019 Congenital deformity (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
412906014 Congenital deformity en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
412906014 Congenital deformity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
669596019 Congenital deformity (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
669596019 Congenital deformity (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
23461000077113 anomalie morphologique congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
23461000077113 anomalie morphologique congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

553 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital deformity (disorder) Is a Congenital disease false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity (disorder) Associated morphology Congenital deformity false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity (disorder) Is a Congenital malformation true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity (disorder) Is a Deformity (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital deformity (disorder) Associated morphology Deformity (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital deformity (disorder) Associated morphology Congenital deformity false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital deformity (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Fetal postural deformity (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Specified intrauterine postural deformity NEC Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of sacroiliac joint Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
deformità congenita della colonna vertebrale Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of pinna Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of labyrinth Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of hip joint Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of ankle joint Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of foot (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of forehead (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hyperextension of limb Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hyperflexion of limb Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of face (disorder) Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of clavicle Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of lumbosacral region (disorder) Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
déformation en hyperextension du genou Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hammer toe (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of foot and ankle (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
déformation causée par une bride amniotique Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of scapula (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of pharynx (disorder) Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
thorax en carène Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pectus excavatum (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of mitral valve annulus (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital elongation of innominate artery Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital lordosis/scoliosis Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
incurvation posturale congénitale de la colonne vertébrale Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital keratoglobus Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital shortening of tendon Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Arachnodactyly Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital short hard palate Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital depression in skull Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of knee joint Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Skull congenital deformities Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of chest wall (disorder) Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Thumb in palm deformity Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital flat back deformity (disorder) Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hyperextension of limb Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hyperflexion of limb Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly syndrome Guadalajara type 1 Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly syndrome Guadalajara type 2 Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital keratoconus Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Camptobrachydactyly (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly taurinuria syndrome (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bent ulna (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital leg bone bowing (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital angulation of tibia (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital chordee Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital clinodactyly Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cornea plana Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital lateral curvature of penis Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bent humerus Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bent hyoid bone Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Campomelia Cumming type (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bent ilium Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bent ischium Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bent pubis Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bent radius (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of right hand (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dolichocolon Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pili torti (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital retroversion of bilateral femurs (finding) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Longitudinal deficiency of upper limb Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Manus valga Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital short urethra (disorder) Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Acrofacial dysostosis Rodriguez type (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Acrorenal mandibular syndrome (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
MEDNIK-Syndrom Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990. Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Manus plana Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of left hand (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital short trunk Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dolichocephalic dwarfism (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital short growth of innominate artery Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital plagiocephaly with pelvic obliquity (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fine Lubinsky syndrome (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Jeune thoracic dystrophy (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital short oesophagus Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital redundant colon Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Longitudinal deficiency of part of upper limb (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Longitudinal deficiency of lower limb (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Vascular ring with malrotation and dextroversion of heart and hypoplasia of right lung and left arterial duct (disorder) Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Rhizomelic chondrodysplasia punctata syndrome Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies syndrome characterised by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Radio-renal syndrome (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital short bowel syndrome Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital varus ankle Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lethal faciocardiomelic dysplasia (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital short costocoracoid ligament (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Manus vara (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital inversion of nipple Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Increased anogenital distance Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital humeral varus (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital undergrowth of partial lower limb Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

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