276655000: congenitale deformiteit (aandoening)

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

\Deformity (finding)\Congenital deformity

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital deformity	Is a	Congenital disease (disorder)	false	Inferred relationship	Some
Congenital deformity	Occurrence	Congenital	false	Inferred relationship	Some
Congenital deformity	Associated morphology	congenitale deformiteit (afwijkende morfologie)	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	congenitale deformiteit (afwijkende morfologie)	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
Cloverleaf skull with multiple congenital anomalies syndrome (disorder)	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	Is a	False	Congenital deformity	Inferred relationship	Some
hemimelie van bovenste extremiteit (aandoening)	Is a	False	Congenital deformity	Inferred relationship	Some
Congenital anteversion of femur	Is a	False	Congenital deformity	Inferred relationship	Some
Distal limb deficiency with micrognathia syndrome (disorder)	Is a	False	Congenital deformity	Inferred relationship	Some
hemimelie van onderste extremiteit (aandoening)	Is a	False	Congenital deformity	Inferred relationship	Some
Congenital bilateral internal tibial torsion	Is a	False	Congenital deformity	Inferred relationship	Some
Limb mammary syndrome (disorder)	Is a	False	Congenital deformity	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Is a	False	Congenital deformity	Inferred relationship	Some
X-linked intellectual disability with plagiocephaly syndrome (disorder)	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
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome	Is a	False	Congenital deformity	Inferred relationship	Some
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome	Is a	False	Congenital deformity	Inferred relationship	Some
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome	Is a	False	Congenital deformity	Inferred relationship	Some
Radial deficiency, tibial hypoplasia syndrome	Is a	False	Congenital deformity	Inferred relationship	Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Is a	False	Congenital deformity	Inferred relationship	Some
Congenital abnormal long growth of bile duct	Is a	True	Congenital deformity	Inferred relationship	Some
hemimelie (aandoening)	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 (disorder)	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 (disorder)	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
MASA syndrome	Is a	False	Congenital deformity	Inferred relationship	Some
Brachygnathism	Is a	True	Congenital deformity	Inferred relationship	Some
Constriction ring syndrome (disorder)	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
congenitale houdingslordose (aandoening)	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
Joint contractures, developmental delay, Pierre Robin syndrome (disorder)	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 (procedure)	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 persistant cloaca with lengthening of vagina (procedure)	Has focus	True	Congenital deformity	Inferred relationship	Some	4
Repair of persistant cloaca by abdominal and sacroperineal approach (procedure)	Has focus	True	Congenital deformity	Inferred relationship	Some	4
Repair of persistant cloaca by sacroperineal approach (procedure)	Has focus	True	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
Congenital deformity of cauda equina (disorder)	Is a	False	Congenital deformity	Inferred relationship	Some
Congenital deformity of bile duct	Is a	False	Congenital deformity	Inferred relationship	Some
Congenital deformity of adnexal structure of skin	Is a	False	Congenital deformity	Inferred relationship	Some
Congenital deformity of vestibulocochlear nerve (disorder)	Is a	False	Congenital deformity	Inferred relationship	Some
Congenital deformity of mastoid (disorder)	Is a	False	Congenital deformity	Inferred relationship	Some
Congenital longitudinal deformity of forearm (disorder)	Is a	False	Congenital deformity	Inferred relationship	Some
Congenital longitudinal deformity of lower leg (disorder)	Is a	False	Congenital deformity	Inferred relationship	Some
Congenital longitudinal deformity of thigh (disorder)	Is a	False	Congenital deformity	Inferred relationship	Some
Congenital angulation deformity of hip	Is a	False	Congenital deformity	Inferred relationship	Some
Congenital angulation deformity of lower leg	Is a	False	Congenital deformity	Inferred relationship	Some
Congenital angulation deformity of forearm	Is a	False	Congenital deformity	Inferred relationship	Some
Congenital angulation deformity of pelvis	Is a	True	Congenital deformity	Inferred relationship	Some
Congenital angulation deformity of thigh	Is a	False	Congenital deformity	Inferred relationship	Some
Congenital deformity of mastoid (disorder)	Is a	False	Congenital deformity	Inferred relationship	Some
Congenital deformity of lower leg (disorder)	Is a	False	Congenital deformity	Inferred relationship	Some
Congenital angulation deformity of elbow	Is a	False	Congenital deformity	Inferred relationship	Some
Congenital valgus deformity of wrist (disorder)	Is a	False	Congenital deformity	Inferred relationship	Some
Congenital varus deformity of wrist (disorder)	Is a	False	Congenital deformity	Inferred relationship	Some
Congenital thoracolumbar scoliosis (disorder)	Is a	False	Congenital deformity	Inferred relationship	Some

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Reference Sets

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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
1459701000146114	congenitale deformiteit (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1459711000146111	congenitale deformiteit	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14199271000146111	aangeboren deformiteit	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)