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 foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system
\Disease\Disorder of body system\Disorder of musculoskeletal system\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	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	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of musculoskeletal system	Associated morphology	kongenit anomali	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	kongenit anomali	false	Inferred relationship	Some
Congenital anomaly of musculoskeletal system	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of musculoskeletal system	Associated morphology	dysgenese	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	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Camptodactyly	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Syndactyly of toes	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Syndactyly of fingers	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Arachnodactyly	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Talipes planovalgus	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Reduction deformity of lower limb	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Talipes valgus	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital claw foot	Is a	True	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital amputation of upper limb	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Flexion deformity of fingers	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Failure of soft tissue differentiation of lower limb	Is a	True	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Kongenit misdannelsessyndrom med involvering af ekstremiteter	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Multiple pterygium syndrome	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
vissen ekstremitet	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Hypoplasia of upper limb	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Hypoplasia of lower limb	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital anomalies of elbow and upper arm	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Bovine hereditary syndactyly	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Partially impacted tooth in bone	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Sammenvoksede tvillinger, der forårsager mekanisk misforhold	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital crossed toes	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital curly toes	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Triphalangeal great toe	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Split foot	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Agenesis of nasal cartilages	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Transverse deficiency of toe	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Craniorachischisis	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Schistosomus reflexus	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital deformity of wall of nasal sinus	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Papillon-Lefèvre syndrome	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital atresia of osseous meatus of middle ear	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital anomaly of organ of Corti	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital posterior cleft of cricoid cartilage	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Median palatal cyst	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital absence of toe	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
XTE syndrome	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital contracted pelvis	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
A form of primary hypertrophic osteoarthropathy, a rare hereditary disorder with characteristics of digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhoea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes. The disease typically begins during childhood or adolescence and may stabilise after 5-20 years of progression, or progress constantly. Mutations in the HPGD gene (4q33-q34) have been identified. The gene encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH), the main enzyme of prostaglandin degradation. Inherited as an autosomal recessive trait.	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital laryngomalacia (disorder)	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Gorham's disease	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Klippels sygdom	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Marshall-Smith syndrome	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
A congenital disorder of craniofacial development with characteristics of bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. The syndrome is caused by mutations in the TCOF1 gene (5q32) encoding the nucleolar phosphoprotein Treacle or in the POLR1C (6p21.1) or POLR1D (13q12.2) genes, coding for RNA polymerase I and III subunits. Transmission is autosomal dominant with 90% penetrance and variable expressivity, even among affected patients within the same family. Mutations in POLR1C gene are inherited in autosomal recessive manner.	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Radial aplasia-thrombocytopenia syndrome	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital bronchomalacia	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
anomali i cartilago cricoidea	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Kutan asteni hos hunde OG/ELLER katte	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Misfoster med kranieanomalier	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Macrodactyly of toes - simple	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Macrodactyly of toes - fatty nerve tumor	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital varus deformity of foot	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital hyperplasia of muscle	Is a	True	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Multipel kongenit ledstivhed	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital anomaly of musculoskeletal structure of trunk	Is a	True	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital complete absence of upper limb	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
kongenit mangel på flere tæer andre end storetå	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital absence of hand (disorder)	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Hypoplasia of thumb	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
Syndactyly of thumb (disorder)	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Unilateral akiri	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Cleft hand with syndactyly	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Cleft hand - first cleft	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Cleft hand with polydactyly	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Cleft hand - central	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
FH: Cong. orthopedic anomaly	Associated finding	True	Congenital anomaly of musculoskeletal system	Inferred relationship	Some	1
Intrauterin amputation af overekstremitet	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Konstriktionsring i underekstremitet	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Constriction ring of lower limb with lymphedema	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Constriction ring syndrome of lower limb with amputation	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Constriction ring of upper limb with acrosyndactyly and amputation	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Akrosyndaktyli i overekstremitet	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Konstriktionsring i overekstremitet	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Constriction ring of upper limb with lymphedema	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Trichorhinophalangeal dysplasia type III (disorder)	Is a	True	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Trichorhinophalangeal dysplasia type I	Is a	True	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
FH: Cong. orthopedic anomaly	Associated finding	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some	1
Myostatin related hypertrophy of muscle	Is a	True	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital kyphosis	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital anomaly of spine	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital lordosis/scoliosis (disorder)	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Kongenit postural lordose	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Kongenit tommel-springfinger	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital absence of tendon	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Hypoplasia of spine	Is a	True	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Hypoplasia of eye muscle	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Brachysyndactyly of thumb	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Synbrakydaktyli i hånd	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Brachydactyly-missing phalanx	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Brachydactyly-all 3 phalanges	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Syndactyly of toes with fusion of bones	Is a	True	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Transverse deficiency of toe	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital curly toes	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Congenital crossed toes	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Thumb in palm deformity	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Andersen Tawil syndrome (disorder)	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Underudvikling af overekstremitet	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Multiple supernumerary eye muscles	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
Strabismus fixus	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
A rare syndromic disorder with strabismus with characteristics of congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities among others.	Is a	False	Congenital anomaly of musculoskeletal system	Inferred relationship	Some
A rare developmental defect during embryogenesis characterized by congenital lipomatous overgrowth, complex and progressive combined vascular malformations affecting the trunk, and epidermal nevi.	Is a	True	Congenital anomaly of musculoskeletal system	Inferred relationship	Some

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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
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
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
2998411000005111	kongenit anomali i det muskuloskeletale system	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)