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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
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
CLOVE syndrome Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly syndrome Guadalajara type 1 Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital radial deviation of finger (disorder) Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly taurinuria syndrome (disorder) Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
MEDNIK-Syndrom Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Cleft palate with short stature and vertebral anomaly syndrome (disorder) Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital sacrococcygeal anomaly Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Caudal regression syndrome Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Branchioskeletogenital syndrome (disorder) Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of cranial vault Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Talipes valgus of left foot (disorder) Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Talipes valgus of right foot (disorder) Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Skeletal dysplasia Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
An exceedingly rare, autosomal recessive immune disease characterised by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Radicular cyst Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Infantile myofibromatosis Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
incurvation posturale congénitale de la colonne vertébrale Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital postural scoliosis Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Trichorhinophalangeal syndrome type 1 and 3 Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of muscle Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital instability of spine Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Overgrowth syndrome with 2q37 translocation Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Waardenburg syndrome type 3 (disorder) Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Acrania Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital lordosis deformity of spine (disorder) Is a False Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures. Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of slowly progressive night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facial features (periorbital anomalies, malar flatness, retrognathia). Additional manifestations include myopia and extinguished electroretinograms. Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Coffin-Lowry syndrome (disorder) Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of musculoskeletal system (disorder) Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of bone of axial skeleton Is a True Congenital anomaly of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)

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