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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
Congenital undergrowth of partial lower limb Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bowing of femur Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Decreased anogenital distance (disorder) Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ectromelia Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital valgus ankle Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Micromelic spondyloepimetaphyseal dysplasia Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
hémimélie d'un membre supérieur Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anteversion of femur (finding) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Distal limb deficiency with micrognathia syndrome Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
hémimélie d'un membre inférieur Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bilateral internal tibial torsion Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Limb mammary syndrome Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with plagiocephaly syndrome (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital positional plagiocephaly Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cubitus valgus Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cubitus varus Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia and cleft palate. The syndrome is associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992. Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Radial deficiency, tibial hypoplasia syndrome Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare developmental defect during embryogenesis malformation syndrome with congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (for example chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal long growth of bile duct (disorder) Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
hémimélie Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Arthrogryposis Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abduction contracture of hip Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital flexion contracture of hip Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital flexion contracture of knee (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital generalized flexion contractures of lower limb joints Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital extension contracture of the knee Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lethal multiple pterygium syndrome Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital contracted pelvis Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital skin contracture Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital amputation of upper limb Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Intrauterine amputation of lower limb (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital spade-like hand Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anterior staphyloma Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short preputial frenulum (disorder) Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of wall of nasal sinus Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital leg length discrepancy (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital iris ectropion (disorder) Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Manus cava Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Long narrow head (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Limb reduction-ichthyosis syndrome Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
MASA syndrome Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Brachygnathism Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Constriction ring syndrome (disorder) Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Bilateral cornea plana Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bowing of ulna Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital coxa valga Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital coxa vara Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital shortening of ear (disorder) Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Longitudinal deficiency of part of limb (disorder) Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Longitudinal deficiency of limb Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital tortuosity of branch of aortic arch (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital postural scoliosis Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital postural lordosis Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital kyphosis Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pterygium of nail (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of bone of forearm (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital lordosis deformity of spine (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of soft tissue (disorder) Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of bony orbit Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital expansion of orbit Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital contraction of orbit Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of lower limb (disorder) Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Release of constriction ring (procedure) Has focus False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 3
Division of constricting band on limb Has focus False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Correction of congenital deformity Has focus True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Repair of persistent cloaca with lengthening of vagina (procedure) Has focus False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 4
Repair of persistent cloaca by abdominal and sacroperineal approach Has focus False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 4
Repair of persistent cloaca by sacroperineal approach Has focus False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 3
Correction of congenital deformity of great vessels Has focus True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital deformity of upper limb Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bowing of long bone (disorder) Is a False Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of musculoskeletal system (disorder) Is a True Congenital deformity (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

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