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73573004: Congenital anomaly of musculoskeletal system (disorder)

Status: current, 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
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
360701000195115 anomalia congenita dell'apparato muscolo-scheletrico it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3393037016 anomalie congénitale du système musculo-squelettique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
123421000077114 anomalie congénitale de l'appareil locomoteur fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
22401001000113 Angeborene Anomalie des Bewegungsapparats de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
22501001000114 Kongenitale Anomalie des Muskel-Skelett-Systems de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
22511001000112 Angeborene muskuloskeletale Anomalie de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
661131000274110 Kongenitale muskuloskelettale Fehlbildung de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
661141000274117 Angeborene muskuloskelettale Fehlbildung de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
661151000274119 Angeborene Fehlbildung des Bewegungsapparats de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2750 descendants. Search Descendants:

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 (disorder) 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 anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of musculoskeletal system Associated morphology anomalie congénitale 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 anomalie du développement 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
Congenital malformation syndromes involving limbs 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
membre atrophié 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
Conjoined twins causing disproportion 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
Xeroderma, talipes and enamel defect syndrome (disorder) 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
Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy, a rare hereditary disorder, and is characterised by 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 fruste with prominent pachydermia and minimal-to-absent skeletal changes. Is a False Congenital anomaly of musculoskeletal system Inferred relationship Some
Congenital laryngomalacia 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
Klippel's disease 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 rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal. 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
Anomaly of cricoid cartilage Is a False Congenital anomaly of musculoskeletal system Inferred relationship Some
Cutaneous asthenia in dogs AND/OR cats Is a False Congenital anomaly of musculoskeletal system Inferred relationship Some
Monster with cranial anomalies 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
Multiple congenital articular rigidities 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 (disorder) Is a False Congenital anomaly of musculoskeletal system Inferred relationship Some
Congenital absence of other multiple toes 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
acheirie unilatérale 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
Intrauterine amputation of upper limb Is a False Congenital anomaly of musculoskeletal system Inferred relationship Some
Constriction ring of lower limb 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
Acrosyndactyly of upper limb Is a False Congenital anomaly of musculoskeletal system Inferred relationship Some
Constriction ring of upper limb 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 Is a False Congenital anomaly of musculoskeletal system Inferred relationship Some
Congenital postural lordosis Is a False Congenital anomaly of musculoskeletal system Inferred relationship Some
pollice a scatto congenito 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
Synbrachydactyly of hand 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 (disorder) 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
Undergrowth of upper limb 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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