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6081001: 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

55 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deformity Is a Mechanical abnormality true Inferred relationship Some
Deformity Is a Abnormal shape (morphologic abnormality) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Acquired deformity of bilateral ears (disorder) Associated morphology True Deformity Inferred relationship Some 1
Acquired deformity of bilateral ears (disorder) Associated morphology True Deformity Inferred relationship Some 2
Acquired deformity of left ear (disorder) Associated morphology True Deformity Inferred relationship Some 1
Acquired deformity of right ear Associated morphology True Deformity Inferred relationship Some 1
Acquired deformity of right pierced ear lobe (disorder) Associated morphology True Deformity Inferred relationship Some 1
Acquired deformity of left pierced ear lobe Associated morphology True Deformity Inferred relationship Some 1
Acquired deformity of bilateral pierced ear lobes (disorder) Associated morphology True Deformity Inferred relationship Some 1
Acquired deformity of bilateral pierced ear lobes (disorder) Associated morphology True Deformity Inferred relationship Some 2
Surgical distraction of externally adjustable spinal deformity correction system (procedure) Direct morphology True Deformity Inferred relationship Some 1
Acquired bilateral mallet toe (disorder) Associated morphology False Deformity Inferred relationship Some 2
Acquired bilateral mallet toe (disorder) Associated morphology False Deformity Inferred relationship Some 1
Bilateral acquired deformity of toe of feet Associated morphology True Deformity Inferred relationship Some 2
Bilateral acquired deformity of toe of feet Associated morphology True Deformity Inferred relationship Some 1
Acquired deformity of bilateral feet (disorder) Associated morphology True Deformity Inferred relationship Some 2
Acquired deformity of bilateral feet (disorder) Associated morphology True Deformity Inferred relationship Some 1
Bilateral acquired deformity of finger of hands Associated morphology True Deformity Inferred relationship Some 2
Bilateral acquired deformity of finger of hands Associated morphology True Deformity Inferred relationship Some 1
Acquired deformity of bilateral hands (disorder) Associated morphology True Deformity Inferred relationship Some 1
Acquired deformity of bilateral hands (disorder) Associated morphology True Deformity Inferred relationship Some 2
Acquired deformity of right hand (disorder) Associated morphology True Deformity Inferred relationship Some 1
Acquired deformity of left hand Associated morphology True Deformity Inferred relationship Some 1
Acquired deformity of right foot (disorder) Associated morphology True Deformity Inferred relationship Some 1
Acquired deformity of left foot Associated morphology True Deformity Inferred relationship Some 1
Bilateral talipes Associated morphology True Deformity Inferred relationship Some 3
Bilateral talipes Associated morphology True Deformity Inferred relationship Some 2
Bilateral talipes Associated morphology True Deformity Inferred relationship Some 4
Bilateral talipes Associated morphology True Deformity Inferred relationship Some 1
Acquired trigger finger of bilateral little fingers (disorder) Associated morphology True Deformity Inferred relationship Some 2
Acquired trigger finger of bilateral little fingers (disorder) Associated morphology True Deformity Inferred relationship Some 1
Congenital deformity of bilateral hands (disorder) Associated morphology True Deformity Inferred relationship Some 1
Congenital deformity of bilateral hands (disorder) Associated morphology True Deformity Inferred relationship Some 2
Congenital deformity of bilateral hip joints (disorder) Associated morphology True Deformity Inferred relationship Some 1
Congenital deformity of bilateral hip joints (disorder) Associated morphology True Deformity Inferred relationship Some 2
Congenital deformity of toe of left foot (disorder) Associated morphology True Deformity Inferred relationship Some 1
Acquired trigger finger of bilateral middle fingers (disorder) Associated morphology True Deformity Inferred relationship Some 2
Acquired trigger finger of bilateral middle fingers (disorder) Associated morphology True Deformity Inferred relationship Some 1
Bilateral acquired trigger finger of ring fingers Associated morphology True Deformity Inferred relationship Some 2
Bilateral acquired trigger finger of ring fingers Associated morphology True Deformity Inferred relationship Some 1
Congenital deformity of toe of bilateral feet (disorder) Associated morphology True Deformity Inferred relationship Some 1
Congenital deformity of toe of bilateral feet (disorder) Associated morphology True Deformity Inferred relationship Some 2
Congenital deformity of toe of right foot (disorder) Associated morphology True Deformity Inferred relationship Some 1
Acquired trigger finger of bilateral index fingers (disorder) Associated morphology True Deformity Inferred relationship Some 2
Acquired trigger finger of bilateral index fingers (disorder) Associated morphology True Deformity Inferred relationship Some 1
Congenital deformity of right hand (disorder) Associated morphology True Deformity Inferred relationship Some 1
Congenital deformity of left hip joint (disorder) Associated morphology True Deformity Inferred relationship Some 1
Congenital deformity of right hip joint (disorder) Associated morphology True Deformity Inferred relationship Some 1
Congenital deformity of left hand (disorder) Associated morphology True Deformity Inferred relationship Some 1
Talipes of right foot (disorder) Associated morphology True Deformity Inferred relationship Some 1
Talipes of right foot (disorder) Associated morphology True Deformity Inferred relationship Some 2
Talipes of left foot (disorder) Associated morphology True Deformity Inferred relationship Some 2
Talipes of left foot (disorder) Associated morphology True Deformity Inferred relationship Some 1
Acquired trigger finger of right little finger Associated morphology True Deformity Inferred relationship Some 1
Acquired trigger finger of left little finger (disorder) Associated morphology True Deformity Inferred relationship Some 1
Acquired deformity of left pinna (disorder) Associated morphology True Deformity Inferred relationship Some 1
Acquired deformity of right pinna (disorder) Associated morphology True Deformity Inferred relationship Some 1
Acquired deformity of bilateral pinnas (disorder) Associated morphology True Deformity Inferred relationship Some 2
Acquired deformity of bilateral pinnas (disorder) Associated morphology True Deformity Inferred relationship Some 1
Darwin's tubercle Associated morphology True Deformity Inferred relationship Some 1
Lop ear deformity Associated morphology True Deformity Inferred relationship Some 1
Congenital pectus carinatum Associated morphology False Deformity Inferred relationship Some 1
Congenital pectus carinatum Associated morphology False Deformity Inferred relationship Some 2
Congenital deformity of lumbosacral joint Associated morphology True Deformity Inferred relationship Some 1
External malleolar torsion Associated morphology False Deformity Inferred relationship Some 1
Congenital subluxation of hip Associated morphology False Deformity Inferred relationship Some 2
Congenital deformity of pinna Associated morphology True Deformity Inferred relationship Some 1
Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly. Associated morphology True Deformity Inferred relationship Some 1
Vulcan ear Associated morphology True Deformity Inferred relationship Some 1
Simple ear Associated morphology True Deformity Inferred relationship Some 1
Congenital deformity of face (disorder) Associated morphology True Deformity Inferred relationship Some 1
Bilateral congenital deformity of feet Associated morphology True Deformity Inferred relationship Some 2
Bilateral congenital deformity of feet Associated morphology True Deformity Inferred relationship Some 1
Midline fissured, notched and cleft nose Associated morphology False Deformity Inferred relationship Some 1
Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. Associated morphology False Deformity Inferred relationship Some 4
Skull congenital deformities Associated morphology True Deformity Inferred relationship Some 1
Congenital keratoglobus Associated morphology False Deformity Inferred relationship Some 1
Internal malleolar torsion Associated morphology False Deformity Inferred relationship Some 1
Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown. Associated morphology False Deformity Inferred relationship Some 4
Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown. Associated morphology False Deformity Inferred relationship Some 3
Congenital squashed or bent nose Associated morphology False Deformity Inferred relationship Some 1
Congenital deformity of scapula (disorder) Associated morphology True Deformity Inferred relationship Some 1
Congenital dislocation of one hip with subluxation of other Associated morphology False Deformity Inferred relationship Some 1
Congenital flat back deformity (disorder) Associated morphology True Deformity Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, sensorineural hearing loss, developmental delay with variable degrees of intellectual disability, seizures, short stature, brachycephaly, and dysmorphic facial features (such as flat facial appearance, ptosis, short nasal tip, long philtrum, low-set and posteriorly rotated ears, and small mouth). Additional reported manifestations are skeletal abnormalities, nail dystrophy, mammary gland hypoplasia, and autism spectrum disorder. Associated morphology True Deformity Inferred relationship Some 2
Congenital deformity of spine Associated morphology True Deformity Inferred relationship Some 1
Congenital pointed ear Associated morphology True Deformity Inferred relationship Some 1
Congenital deformity of chest wall Associated morphology True Deformity Inferred relationship Some 1
Congenital depression in skull Associated morphology True Deformity Inferred relationship Some 1
Congenital deformity of knee joint Associated morphology True Deformity Inferred relationship Some 1
Congenital prominent auricle Associated morphology True Deformity Inferred relationship Some 1
Congenital mallet toe (disorder) Associated morphology False Deformity Inferred relationship Some 1
déformation en hyperextension du genou Associated morphology False Deformity Inferred relationship Some 1
Congenital fissure of nose Associated morphology True Deformity Inferred relationship Some 1
Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. Associated morphology False Deformity Inferred relationship Some 1
Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. Associated morphology False Deformity Inferred relationship Some 3
Congenital pectus excavatum (disorder) Associated morphology False Deformity Inferred relationship Some 1
Congenital pectus excavatum (disorder) Associated morphology False Deformity Inferred relationship Some 2
Congenital deformity of forehead Associated morphology True Deformity Inferred relationship Some 1
Thoracoschisis Associated morphology False Deformity Inferred relationship Some 1
Aztec ear Associated morphology True Deformity Inferred relationship Some 1
Congenital deformity of pharynx (disorder) Associated morphology True Deformity Inferred relationship Some 1
Congenital deformity of mitral valve annulus (disorder) Associated morphology True Deformity Inferred relationship Some 1

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