FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
122161019 Congenital anomaly of musculoskeletal system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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 Only initial character 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
1233633018 Congenital malformation and deformation of the musculoskeletal system (disorder) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1233634012 Congenital malformation and deformation of the musculoskeletal system en Synonym (core metadata concept) Active Only initial character 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 Only initial character 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 Only initial character 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
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
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
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
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
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

2348 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 Existential restriction modifier (core metadata concept)
Congenital anomaly of musculoskeletal system Is a Disorder of musculoskeletal system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of musculoskeletal system Finding site Structure of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of musculoskeletal system Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of musculoskeletal system Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of musculoskeletal system Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of musculoskeletal system Finding site Structure of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of musculoskeletal system Is a Congenital anomaly false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of musculoskeletal system Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of musculoskeletal system Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of musculoskeletal system Finding site Structure of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of musculoskeletal system Is a Congenital malformation true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of musculoskeletal system Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of musculoskeletal system Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of musculoskeletal system Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Camptodactyly Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Syndactyly of toes Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Syndactyly of fingers (disorder) Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Arachnodactyly Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Talipes planovalgus (disorder) Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Reduction deformity of lower limb (disorder) Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Talipes valgus Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital claw foot (disorder) Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital amputation of upper limb Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Flexion deformity of fingers Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Failure of soft tissue differentiation of lower limb Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation syndromes involving limbs Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Multiple pterygium syndrome (disorder) Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
membre atrophié Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia of upper limb Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia of lower limb Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomalies of elbow and upper arm Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Bovine hereditary syndactyly Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Partially impacted tooth in bone Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Conjoined twins causing disproportion Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital crossed toes Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital curly toes Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Triphalangeal great toe (disorder) Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Split foot Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of nasal cartilages Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Transverse deficiency of toe Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Craniorachischisis Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
schistosomus reflexus Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of wall of nasal sinus Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Papillon-Lefèvre syndrome Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital atresia of osseous meatus of middle ear Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of organ of Corti Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital posterior cleft of cricoid cartilage Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Median palatal cyst (disorder) Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of toe Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
XTE syndrome Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital contracted pelvis Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Pachydermoperiostosis syndrome (disorder) Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital laryngomalacia (disorder) Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Gorham's disease Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Klippel's disease Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Marshall-Smith syndrome Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Radial aplasia-thrombocytopenia syndrome Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bronchomalacia Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of cricoid cartilage Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Cutaneous asthenia in dogs AND/OR cats Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Monster with cranial anomalies Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Macrodactyly of toes - simple Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Macrodactyly of toes - fatty nerve tumor Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital varus deformity of foot Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hyperplasia of muscle (disorder) Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Multiple congenital articular rigidities Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of musculoskeletal structure of trunk Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital complete absence of upper limb (disorder) Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of other multiple toes Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of hand (disorder) Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia of thumb Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital talipes equinus Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Syndactyly of thumb (disorder) Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Unilateral acheiria (disorder) Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Cleft hand with syndactyly (disorder) Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Cleft hand - first cleft Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Cleft hand with polydactyly Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Cleft hand - central (disorder) Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
FH: Cong. orthopedic anomaly Associated finding True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept) 1
Intrauterine amputation of upper limb Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Constriction ring of lower limb Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Constriction ring of lower limb with lymphedema (disorder) Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Constriction ring syndrome of lower limb with amputation Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Constriction ring of upper limb with acrosyndactyly and amputation Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Acrosyndactyly of upper limb Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Constriction ring of upper limb Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Constriction ring of upper limb with lymphedema Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Trichorhinophalangeal dysplasia type III Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Trichorhinophalangeal dysplasia type I Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
FH: Cong. orthopedic anomaly Associated finding False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept) 1
Myostatin related hypertrophy of muscle Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital kyphosis Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of spine Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital lordosis/scoliosis Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital postural lordosis Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
pollice a scatto congenito Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of tendon (disorder) Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia of spine Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia of eye muscle Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Brachysyndactyly of thumb Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Synbrachydactyly of hand Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly-missing phalanx Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly-all 3 phalanges Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Syndactyly of toes with fusion of bones (disorder) Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Transverse deficiency of toe Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital curly toes Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital crossed toes Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Thumb in palm deformity Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Andersen Tawil syndrome Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Undergrowth of upper limb Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Multiple supernumerary eye muscles Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Strabismus fixus Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibrosis syndrome (disorder) Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
CLOVE syndrome Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)

Start Page 2 of 3 End

This concept is not in any reference sets

Back to Start