276655000: Congenital deformity (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Deformity (finding)\Congenital deformity

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity
\Disease\Developmental disorder\Congenital malformation\Congenital deformity

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

2244771000005113 Kongenit deformitet da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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	kongenit deformitet	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 (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital deformity	Associated morphology	kongenit deformitet	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
A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive.	Is a	False	Congenital deformity	Inferred relationship	Some
Hemimeli af overekstremitet	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
hemimeli af underekstremitet	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 with characteristics of 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 with characteristics of unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligo-syndactyly involving the lateral rays. Upper limb oligo-syndactyly and cleft lip/palate may also be associated.	Is a	False	Congenital deformity	Inferred relationship	Some
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	Inferred relationship	Some
A rare genetic dysostosis syndrome with combined reduction defects of upper and lower limbs and characteristics of 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
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	Inferred relationship	Some
Congenital abnormal long growth of bile duct	Is a	True	Congenital deformity	Inferred relationship	Some
hemimeli	Is a	False	Congenital deformity	Inferred relationship	Some
Arthrogryposis (disorder)	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 (disorder)	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
Kongenit postural lordose	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

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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
2244771000005113	Kongenit deformitet	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)