73573004: Congenital anomaly of musculoskeletal system (disorder)

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

\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system

\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of musculoskeletal system	Is a	Congenital disease (disorder)	false	Inferred relationship	Some
Congenital anomaly of musculoskeletal system	Is a	Disorder of musculoskeletal system	true	Inferred relationship	Some
Congenital anomaly of musculoskeletal system	Finding site	Structure of musculoskeletal system (body structure)	true	Inferred relationship	Some	1
Congenital anomaly of musculoskeletal system	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of musculoskeletal system	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Congenital anomaly of musculoskeletal system	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Congenital anomaly of musculoskeletal system	Finding site	Structure of musculoskeletal system (body structure)	false	Inferred relationship	Some	1
Congenital anomaly of musculoskeletal system	Is a	Congenital anomaly	false	Inferred relationship	Some
Congenital anomaly of musculoskeletal system	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of musculoskeletal system	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Congenital anomaly of musculoskeletal system	Finding site	Structure of musculoskeletal system (body structure)	false	Inferred relationship	Some	2
Congenital anomaly of musculoskeletal system	Is a	Congenital malformation	true	Inferred relationship	Some
Congenital anomaly of musculoskeletal system	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of musculoskeletal system	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital anomaly of musculoskeletal system	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Sacral agenesis	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital anomaly of bone and joint	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Bone and joint malformation	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
syndrome de Sjögren primaire avec atteinte organique ou systémique	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
syndrome de Sjögren primaire avec atteinte multisystémique	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
syndrome de Sjögren secondaire avec atteinte organique ou systémique	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
syndrome de Sjögren secondaire avec atteinte multisystémique	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Myofibromatosis	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Muscle L-lactate dehydrogenase deficiency	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Klippel-Trenaunay-Weber syndrome	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital anomaly of limb	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Muscle phosphoglycerate mutase deficiency	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital rectovaginal constriction of Jersey cattle	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Weaver syndrome	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital hyperplasia of muscle	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital anomaly of cartilage	Is a	True	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Marshall-Smith syndrome	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Metabolic disease of collagen	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital anomaly of muscle AND/OR tendon	Is a	True	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Muscle carnitine deficiency	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital anomaly of skeletal bone	Is a	True	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital anomaly of skeletal muscle	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital anomaly of joint	Is a	True	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Branchial cleft anomaly	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital anomaly of musculoskeletal system by body site	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Acephalobrachius	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Acephalogaster	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Acephalothorax	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital deformity of lumbosacral region (disorder)	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Certain congenital musculoskeletal deformities	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital musculoskeletal deformity NOS	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Other congenital musculoskeletal anomalies	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Other specified dwarfing syndromes	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Other specified muscle, tendon and fascia anomaly	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Other muscle, tendon or fascia anomalies NOS	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Unspecified anomaly of bones	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Unspecified anomaly of cartilage	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital malformation syndromes with other skeletal changes	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
[X]Congenital malformations and deformations of the musculoskeletal system	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
[X]Other specified congenital musculoskeletal deformities	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
[X]Other congenital malformations of the musculoskeletal system	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital deformity of musculoskeletal system NEC	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Other musculoskeletal deformity	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Other specified other anomalies of muscle, tendon and fascia	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital musculoskeletal anomalies NOS	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
FH: Cong. orthopedic anomaly	Associated finding	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some	1
Congenital talipes calcaneovalgus	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital pes cavus	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital talipes equinus	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Central polydactyly of fingers	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Ulnar polydactyly of fingers	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Preaxial polydactyly of toe (disorder)	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Postaxial polydactyly of toe	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Radial polydactyly	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Transverse deficiency of arm, shoulder level	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Rudimentary arm	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Transverse arrest phalangeal level first ray	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Transverse arrest phalangeal level second ray	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Transverse arrest phalangeal level third ray	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Transverse arrest phalangeal level fourth ray (disorder)	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Transverse arrest phalangeal level fifth ray	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Macrodactyly of fingers - simple	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Macrodactyly of fingers- fatty nerve tumor	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Windblown hand (disorder)	Is a	True	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Thumb in palm deformity	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Undergrowth of whole hand	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Constriction ring syndrome of upper limb	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Triphalangeal thumb	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital convex pes valgus	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital overgrowth of lower limb	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital undergrowth of lower limb	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital undergrowth of foot	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Constriction ring syndrome of lower limb (disorder)	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Intrauterine amputation of lower limb (disorder)	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Duplication of upper limb	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Overgrowth of upper limb	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Undergrowth of upper limb	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Phocomelia of upper limb (disorder)	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Synbrachydactyly	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Macrodactyly of thumb (disorder)	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Hitch-hiker thumb	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Undergrowth of the thumb	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital deformity of foot and ankle	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital abnormality of foot and toes (disorder)	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Mesoaxial polydactyly of toe	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Perodactylia	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Bifid digit	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital varus deformities of foot	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital rearfoot valgus	Is a	True	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital forefoot valgus	Is a	True	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Transverse deficiency of hand	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Duplication of lower limb	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Brachydactyly of hand	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital articular rigidity with myopathy	Is a	True	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital absence of upper limb (disorder)	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital spade-like hand	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Talipomanus	Is a	True	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital clinodactyly	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Meromicrosomia	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Camptodactyly	Is a	True	Congenital anomaly of musculoskeletal system	Inferred relationship	Some

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Reference Sets

Belgian GP subset (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
122161019	Congenital anomaly of musculoskeletal system	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
122165011	Congenital deformity of musculoskeletal system	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
122166012	Congenital musculoskeletal abnormality	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
813976011	Congenital anomaly of musculoskeletal system (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1233634012	Congenital malformation and deformation of the musculoskeletal system	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1233635013	Congenital abnormality of musculoskeletal system	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3005950019	Congenital malformation of musculoskeletal system	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
610911000172118	anomalie congénitale de l'appareil locomoteur	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
469921000172119	congenitale anomalie van musculoskeletaal systeem	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)