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 deformity of mitral valve annulus (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Flyveøre	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Congenital deformity of sacroiliac joint	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Congenital deformity of foot	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Congenital deformity of toe (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Hemifacial myohyperplasia	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Congenital deformity of left foot (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Congenital asymmetry of forehead (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Congenital deformity of left clavicle (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Congenital deformity of right clavicle (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Congenital keratoconus	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
An extremely rare syndrome with characteristics of radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. Transmitted as an autosomal dominant trait.	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	3
Congenital keratoconus posticus circumscriptus	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Congenital bent nose	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	2
hoftes præluksationsstatus ved fødsel	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	1
atresia choanae med CHARGE-syndrom	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Congenital deformity of clavicle	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Cat ear	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Congenital deformity of right foot (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Congenital deformity of ankle joint	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Congenital deformity of foot and ankle	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Congenital deformity of foot and ankle	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Congenital deformity of hip joint	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Congenital deformity of labyrinth	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
øre med kongenit ophøjet rand	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Congenital positional plagiocephaly	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Talipes valgus of bilateral feet (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Talipes valgus of bilateral feet (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	4
Open mallet fracture of distal phalanx of index finger	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	3
Closed mallet fracture of distal phalanx of index finger (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Mallet thumb with closed tendon injury	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Open fracture finger distal phalanx, mallet	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Closed 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 little finger	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Open mallet fracture of distal phalanx of middle finger	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Open fracture thumb distal phalanx, mallet	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Closed fracture finger distal phalanx, mallet	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Closed fracture thumb distal phalanx, mallet	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Closed mallet fracture of distal phalanx of little finger (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Open mallet fracture of distal phalanx of ring finger	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	3
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder)	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	3
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder)	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Talipes valgus of left foot (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Talipes valgus of right foot (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Pellucid marginal degeneration of cornea of bilateral eyes (disorder)	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Pellucid marginal degeneration of cornea of bilateral eyes (disorder)	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Pellucid marginal degeneration of cornea of left eye	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Pellucid marginal degeneration of cornea of right eye (disorder)	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Congenital blepharophimosis of upper eyelid	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	2
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	2
erhvervet supinationsdeformitet i fod	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Erhvervet supinateret forfod	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Acquired cauliflower ear of right pinna	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Congenital contracted pelvis	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Acquired pronation deformity of right ankle	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Acquired pronation deformity of bilateral ankles	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Acquired pronation deformity of bilateral ankles	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Acquired pronation deformity of left ankle	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	1
erhvervet pronationsdeformitet af ankel	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	1
forsnævring af bækkenudgang, barn født	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	3
forsnævring af bækkenudgang med prænatalt problem	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	3
Outlet contraction of pelvis	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	3
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of the triad: congenital bilateral symmetrical subtotal external auditory canal atresia, bilateral vertical talus and increased interocular distance.	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	4
Acute hydrops keratoconus of right eye (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	3
Acute hydrops keratoconus of left eye (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	3
forsnævring af bækkenindgang, barn født	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Blefarofimosesyndrom	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Congenital blepharophimosis of lower eyelid	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	2
A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested.	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	4
forsnævring af bækkenindgang med prænatalt problem	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Ohdo syndrome, Maat-Kievit-Brunner type	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay.	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	False	Deformity (morphologic abnormality)	Inferred relationship	Some	3
Open mallet fracture of distal phalanx of middle finger of right hand (disorder)	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	3
Open mallet fracture of distal phalanx of index finger of left hand	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	3
Open mallet fracture of distal phalanx of middle finger of left hand (disorder)	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	3
Open mallet fracture of distal phalanx of ring finger of left hand (disorder)	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	3
Open mallet fracture of distal phalanx of ring finger of right hand	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	3
Open mallet fracture of distal phalanx of index finger of right hand (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	3
Bilateral deformity of hands due to rheumatoid arthritis	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Bilateral deformity of hands due to rheumatoid arthritis	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Bilateral deformity of wrists due to rheumatoid arthritis	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Bilateral deformity of wrists due to rheumatoid arthritis	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
Bilateral deformity of feet due to rheumatoid arthritis	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Bilateral deformity of feet due to rheumatoid arthritis	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	2
objektivt: fikseret leddeformitet	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Erhvervet pronation af forfod	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Closed mallet fracture of distal phalanx of middle finger of left hand	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	3
Closed mallet fracture of distal phalanx of middle finger of right hand (disorder)	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	3
Fetal postural deformity	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Congenital anterior staphyloma	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Joint deformity	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Arm length inequality	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Ulnar deviation of the thumb	Associated morphology	False	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Multiple joint deformity	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Elbow joint deformity	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Increased carrying angle of elbow joint	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Thumb joint deformity	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Toe joint deformity	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Acquired cauliflower ear of left pinna (disorder)	Associated morphology	True	Deformity (morphologic abnormality)	Inferred relationship	Some	1
Congenital leg length discrepancy (disorder)	Associated 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)