FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-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
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
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
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. Is a False Congenital anomaly of musculoskeletal system Inferred relationship Some
Congenital radial deviation of finger (disorder) Is a True Congenital anomaly of musculoskeletal system Inferred relationship Some
A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966. Is a False Congenital anomaly of musculoskeletal system Inferred relationship Some
MEDNIK-Syndrom Is a False Congenital anomaly of musculoskeletal system Inferred relationship Some
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993. Is a True Congenital anomaly of musculoskeletal system Inferred relationship Some
Congenital sacrococcygeal anomaly Is a True Congenital anomaly of musculoskeletal system Inferred relationship Some
Caudal regression syndrome Is a False Congenital anomaly of musculoskeletal system Inferred relationship Some
Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature. Is a True Congenital anomaly of musculoskeletal system Inferred relationship Some
Congenital absence of cranial vault (disorder) Is a True Congenital anomaly of musculoskeletal system Inferred relationship Some
Talipes valgus of left foot (disorder) Is a False Congenital anomaly of musculoskeletal system Inferred relationship Some
Talipes valgus of right foot (disorder) Is a False Congenital anomaly of musculoskeletal system Inferred relationship Some
Congenital skeletal dysplasia (disorder) Is a True Congenital anomaly of musculoskeletal system Inferred relationship Some
An exceedingly rare, autosomal recessive immune disease characterized 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 Some
Radicular cyst Is a False Congenital anomaly of musculoskeletal system Inferred relationship Some
Infantile myofibromatosis Is a False Congenital anomaly of musculoskeletal system Inferred relationship Some
incurvation posturale congénitale de la colonne vertébrale Is a False Congenital anomaly of musculoskeletal system Inferred relationship Some
Congenital postural scoliosis Is a False Congenital anomaly of musculoskeletal system Inferred relationship Some
A rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud's syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975. Is a False Congenital anomaly of musculoskeletal system Inferred relationship Some
A rare multiple congenital anomalies syndrome characterized by short stature, sparse and depigmented scalp hair, typical facial characteristics (broad eyebrows, especially the medial portion, broad nasal ridge and tip, underdeveloped nasal alae, long philtrum, thin upper lip vermilion, and protruding ears), and limb anomalies (brachydactyly, short metacarpals and metatarsals, cone-shaped phalangeal epiphyses, dystrophic nails, and hip dysplasia). Is a True Congenital anomaly of musculoskeletal system Inferred relationship Some
Aplasia of muscle Is a True Congenital anomaly of musculoskeletal system Inferred relationship Some
Congenital instability of spine Is a True Congenital anomaly of musculoskeletal system Inferred relationship Some
A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported. Is a True Congenital anomaly of musculoskeletal system Inferred relationship Some
A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene. Is a False Congenital anomaly of musculoskeletal system Inferred relationship Some
Acrania Is a True Congenital anomaly of musculoskeletal system Inferred relationship Some
Congenital lordosis deformity of spine (disorder) Is a False Congenital anomaly of musculoskeletal system Inferred relationship Some
Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported. Is a True Congenital anomaly of musculoskeletal system Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, craniofacial dysmorphism (such as ridged metopic sutures, long palpebral fissures, broad nasal bridge, hypoplastic alae nasi, low-set, prominent ears, prominent midline tongue groove, and downturned mouth), congenital heart defects, and variable skeletal abnormalities including hip dysplasia, vertebral anomalies, and scoliosis. Additional reported manifestations include high pain tolerance and genitourinary anomalies. Brain imaging may show a thin corpus callosum or white matter abnormalities. Is a True Congenital anomaly of musculoskeletal system Inferred relationship Some
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 Some
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 Some
A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe. Is a True Congenital anomaly of musculoskeletal system Inferred relationship Some
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome Is a True Congenital anomaly of musculoskeletal system Inferred relationship Some
Congenital deformity of musculoskeletal system (disorder) Is a True Congenital anomaly of musculoskeletal system Inferred relationship Some
Aplasia of bone of axial skeleton Is a True Congenital anomaly of musculoskeletal system Inferred relationship Some

Start Previous Page 3 of 3

This concept is not in any reference sets

Back to Start