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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
23461000077113 anomalie morphologique congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

635 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital deformity Is a Congenital disease false Inferred relationship Some
Congenital deformity Occurrence Congenital false Inferred relationship Some
Congenital deformity Associated morphology Congenital deformity false Inferred relationship Some
Congenital deformity Is a Congenital malformation true Inferred relationship Some
Congenital deformity Is a Deformity (finding) true Inferred relationship Some
Congenital deformity Occurrence Congenital true Inferred relationship Some 1
Congenital deformity Associated morphology Deformity true Inferred relationship Some 1
Congenital deformity Associated morphology Congenital deformity false Inferred relationship Some 1
Congenital deformity Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital undergrowth of partial lower limb Is a False Congenital deformity Inferred relationship Some
Congenital bowing of femur Is a False Congenital deformity Inferred relationship Some
Decreased anogenital distance Is a True Congenital deformity Inferred relationship Some
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. Is a False Congenital deformity Inferred relationship Some
Ectromelia Is a False Congenital deformity Inferred relationship Some
Congenital valgus ankle Is a False Congenital deformity Inferred relationship Some
Micromelic spondyloepimetaphyseal dysplasia Is a False Congenital deformity Inferred relationship Some
Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. Is a False Congenital deformity Inferred relationship Some
hémimélie d'un membre supérieur Is a False Congenital deformity Inferred relationship Some
Congenital anteversion of femur Is a False Congenital deformity Inferred relationship Some
The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. Is a False Congenital deformity Inferred relationship Some
hémimélie d'un membre inférieur Is a False Congenital deformity Inferred relationship Some
Congenital bilateral internal tibial torsion Is a False Congenital deformity Inferred relationship Some
A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present. Is a False Congenital deformity Inferred relationship Some
A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis. Is a False Congenital deformity Inferred relationship Some
A rare, syndromic intellectual disability characterized by severe intellectual deficit, brachycephaly, plagiocephaly, and prominent forehead in male patients. Females may display moderate intellectual deficit without craniofacial dysmorphism. There have been no further descriptions in the literature since 1992. Is a False Congenital deformity Inferred relationship Some
Congenital positional plagiocephaly Is a False Congenital deformity Inferred relationship Some
Congenital cubitus valgus Is a False Congenital deformity Inferred relationship Some
Congenital cubitus varus Is a False Congenital deformity Inferred relationship Some
A rare, genetic, primary bone dysplasia disorder characterized by short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension, and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically, moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed. Is a False Congenital deformity Inferred relationship Some
A rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be associated. Is a False Congenital deformity Inferred relationship Some
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, 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 Inferred relationship Some
Radial deficiency-tibial hypoplasia syndrome is a rare, genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996. Is a False Congenital deformity Inferred relationship Some
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. Is a False Congenital deformity Inferred relationship Some
Congenital abnormal long growth of bile duct Is a True Congenital deformity Inferred relationship Some
hémimélie Is a False Congenital deformity Inferred relationship Some
Arthrogryposis Is a True Congenital deformity Inferred relationship Some
Congenital abduction contracture of hip Is a False Congenital deformity Inferred relationship Some
Congenital flexion contracture of hip Is a False Congenital deformity Inferred relationship Some
Congenital flexion contracture of knee Is a False Congenital deformity Inferred relationship Some
Congenital generalized flexion contractures of lower limb joints Is a True Congenital deformity Inferred relationship Some
Congenital extension contracture of the knee Is a False Congenital deformity Inferred relationship Some
Lethal multiple pterygium syndrome Is a False Congenital deformity Inferred relationship Some
Congenital contracted pelvis Is a False Congenital deformity Inferred relationship Some
Congenital skin contracture Is a False Congenital deformity Inferred relationship Some
Congenital amputation of upper limb Is a False Congenital deformity Inferred relationship Some
Intrauterine amputation of lower limb Is a False Congenital deformity Inferred relationship Some
Congenital spade-like hand Is a False Congenital deformity Inferred relationship Some
Congenital anterior staphyloma Is a False Congenital deformity Inferred relationship Some
Short preputial frenulum Is a True Congenital deformity Inferred relationship Some
Congenital deformity of wall of nasal sinus Is a True Congenital deformity Inferred relationship Some
Congenital leg length discrepancy (disorder) Is a False Congenital deformity Inferred relationship Some
Congenital iris ectropion (disorder) Is a True Congenital deformity Inferred relationship Some
Manus cava Is a False Congenital deformity Inferred relationship Some
Long narrow head Is a False Congenital deformity Inferred relationship Some
Limb reduction-ichthyosis syndrome Is a False Congenital deformity Inferred relationship Some
An X-linked clinical subtype of L1 syndrome with characteristics of mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs and mild to moderate distension of the cerebral ventricles. Is a False Congenital deformity Inferred relationship Some
Brachygnathism Is a True Congenital deformity Inferred relationship Some
Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise. Is a True Congenital deformity Inferred relationship Some
Cornea plana of bilateral corneas (disorder) Is a True Congenital deformity Inferred relationship Some
Congenital bowing of ulna Is a False Congenital deformity Inferred relationship Some
Congenital coxa valga Is a False Congenital deformity Inferred relationship Some
Congenital coxa vara Is a False Congenital deformity Inferred relationship Some
Congenital short ear Is a True Congenital deformity Inferred relationship Some
Longitudinal deficiency of part of limb (disorder) Is a True Congenital deformity Inferred relationship Some
Longitudinal deficiency of limb Is a True Congenital deformity Inferred relationship Some
Congenital tortuosity of branch of aortic arch (disorder) Is a False Congenital deformity Inferred relationship Some
Congenital postural scoliosis Is a False Congenital deformity Inferred relationship Some
Congenital postural lordosis Is a False Congenital deformity Inferred relationship Some
Congenital kyphosis Is a False Congenital deformity Inferred relationship Some
Congenital pterygium of nail (disorder) Is a False Congenital deformity Inferred relationship Some
Congenital deformity of bone of forearm (disorder) Is a False Congenital deformity Inferred relationship Some
Congenital lordosis deformity of spine (disorder) Is a False Congenital deformity Inferred relationship Some
Congenital deformity of soft tissue Is a True Congenital deformity Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate) with joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices, and ocular abnormalities, among others. Is a False Congenital deformity Inferred relationship Some
Congenital deformity of bony orbit Is a False Congenital deformity Inferred relationship Some
Congenital expansion of orbit Is a False Congenital deformity Inferred relationship Some
Congenital contraction of orbit Is a False Congenital deformity Inferred relationship Some
Congenital deformity of lower limb (disorder) Is a True Congenital deformity Inferred relationship Some
Release of constriction ring Has focus False Congenital deformity Inferred relationship Some 3
Division of constricting band on limb Has focus False Congenital deformity Inferred relationship Some 2
Correction of congenital deformity Has focus True Congenital deformity Inferred relationship Some 2
Repair of persistent cloaca with lengthening of vagina (procedure) Has focus False Congenital deformity Inferred relationship Some 4
Repair of persistent cloaca by abdominal and sacroperineal approach (procedure) Has focus False Congenital deformity Inferred relationship Some 4
Repair of persistent cloaca by sacroperineal approach (procedure) Has focus False Congenital deformity Inferred relationship Some 3
Correction of congenital deformity of great vessels (procedure) Has focus True Congenital deformity Inferred relationship Some 2
Congenital deformity of upper limb Is a True Congenital deformity Inferred relationship Some
Congenital bowing of long bone (disorder) Is a False Congenital deformity Inferred relationship Some
Congenital deformity of musculoskeletal system (disorder) Is a True Congenital deformity Inferred relationship Some
Lethal congenital disproportionate short trunk short stature Is a True Congenital deformity Inferred relationship Some
Lethal congenital disproportionate short limbed short stature (disorder) Is a True Congenital deformity Inferred relationship Some

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