6081001: Deformity (morphologic abnormality)

SNOMED CT Concept\Body structure\Body structure, altered from its original anatomical structure (morphologic abnormality)\Morphologically abnormal structure\...

\Abnormal shape (morphologic abnormality)\Deformity (morphologic abnormality)

\Mechanical abnormality\Deformity (morphologic abnormality)

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

11106012 Deformity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

799804010 Deformity (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2610601000005110 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
Deformity (morphologic abnormality)	Is a	Mechanical abnormality	true	Inferred relationship	Some
Deformity (morphologic abnormality)	Is a	Abnormal shape (morphologic abnormality)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital leg length discrepancy (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Leg length inequality	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Scoliotic angulation of ribs	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	2
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features.	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Anterior vertebral body tethering	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Blepharophimosis, intellectual disability syndrome (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Chest deformity due to ankylosing spondylitis	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Deformity of chest due to kyphoscoliosis (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Constriction ring of upper limb with acrosyndactyly and amputation	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	4
Constriction ring syndrome of lower limb with amputation	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	3
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.	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Constricting band of extremity (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Constriction ring syndrome of lower limb	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Constriction ring syndrome of upper limb	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Deformity of toe due to amniotic band (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Deformity of digit of hand due to amniotic band (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Congenital crumpled ear	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Deformity of fibrous joint (finding)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Deformity of left foot	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Deformity of right foot (finding)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Constriction ring of lower limb with lymphedema	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Constriction ring of upper limb with lymphedema	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Acute hydrops keratoconus of bilateral eyes (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	4
Acute hydrops keratoconus of bilateral eyes (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	5
Unstable keratoconus of left eye	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Unstable keratoconus of bilateral eyes (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Unstable keratoconus of bilateral eyes (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Stable keratoconus of left eye	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Stable keratoconus of right eye (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Bilateral stable keratoconus of eyes	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Bilateral stable keratoconus of eyes	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Unstable keratoconus of right eye	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Closed mallet fracture of distal phalanx of middle finger of left hand	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Closed mallet fracture of distal phalanx of middle finger of right hand (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Open mallet fracture of distal phalanx of little finger of right hand (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Open mallet fracture of distal phalanx of ring finger	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Open mallet fracture of distal phalanx of middle finger of right hand (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Open mallet fracture of distal phalanx of middle finger of left hand (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Open mallet fracture of distal phalanx of ring finger of left hand (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Open mallet fracture of distal phalanx of ring finger of right hand	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed.	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	3
Bilateral congenital vertical talus	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	3
Bilateral congenital vertical talus	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	4
Coxa magna of right femur	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Coxa magna of left femur	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Bilateral congenital deformity fingers	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Bilateral congenital deformity fingers	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Rhizomelic chondrodysplasia punctata type 1	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Rhizomelic chondrodysplasia punctata type 2	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Rhizomelic chondrodysplasia punctata type 3	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Congenital talipes equinus	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Lengthening of left side of nasal columella	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Lengthening of right side of nasal columella	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Rotational deformity of cervical spine (finding)	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Acquired deformity of left thigh	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Acquired deformity of right thigh (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Acquired deformity of bilateral lower legs (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Acquired deformity of bilateral lower legs (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Bilateral acquired deformity of hip regions	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Bilateral acquired deformity of hip regions	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Acquired deformity of hip joint (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Acquired deformity of hip region (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Bilateral acquired deformity of knee regions	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Bilateral acquired deformity of knee regions	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Bilateral acquired deformity of ribs	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Bilateral acquired deformity of ribs	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Bilateral acquired deformity of upper arms	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Bilateral acquired deformity of upper arms	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Rotational deformity of lumbar spine (finding)	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Congenital curly toes	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Correction of curly fifth toe	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Reconstruction of cleft foot	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Release of subtalar joint for correction congenital deformity of foot	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Release of pantalar joints for correction congenital deformity of foot	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Correction of congenital deformity of foot	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Reconstruction of toe for macrodactyly with bone resection	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Release of medial soft tissue of hindfoot and excision of lateral wedge of os calcis and fusion of os calcis	Direct morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	4
Posteromedial release of calcaneotalar equinovarus	Direct morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	3
Combined posteromedial and posterolateral release of clubfoot	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	3
Lateral release for congenital deformity of foot	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	3
Correction of congenital vertical talus	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Reduction of gigantism of foot	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	3
Separation of tarsal coalition	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Triple arthrodesis for correction of congenital deformity of foot	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	3
Dilwyn Evans procedure for correction of clubfoot	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Metatarsal osteotomy for correction of congenital deformity of foot	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Correction of minor congenital deformity of foot	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Correction of congenital crossed toes	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Reduction of macrodactyly of toe (procedure)	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
McCauley operation (procedure)	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Turco operation	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Soft tissue release for correction of congenital deformity of hindfoot	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Soft tissue release for correction of congenital deformity of midfoot	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	3
Soft tissue release for correction of congenital deformity of forefoot	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Correction of congenital hallux varus	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Primary correction of clubfoot	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Medial release of joints of foot for correction of congenital deformity of foot	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	3
Osteotomy of body of os calcis for correction congenital deformity of foot	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Wedge tarsectomy for correction congenital deformity of foot	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	3
Heyman operation	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Brockman operation	Direct morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1

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Id	Description	Lang	Type	Status	Case?	Module
11106012	Deformity	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
799804010	Deformity (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2610601000005110	deformitet	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)