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363212003: Hereditary disorder 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
482352016 Hereditary disorder of musculoskeletal system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
755010013 Hereditary disorder of musculoskeletal system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
482352016 Hereditary disorder of musculoskeletal system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
482352016 Hereditary disorder of musculoskeletal system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
755010013 Hereditary disorder of musculoskeletal system (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
755010013 Hereditary disorder of musculoskeletal system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6274161000241113 affection héréditaire du système musculosquelettique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6274161000241113 affection héréditaire du système musculosquelettique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

984 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of musculoskeletal system Is a Disorder of musculoskeletal system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of musculoskeletal system Is a Hereditary disorder by system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of musculoskeletal system Finding site Structure of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Desmosterolosis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Maternally inherited mitochondrial cardiomyopathy and myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Grebe syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Short rib-polydactyly syndrome, Majewski type Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Marshall-Smith syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Metaphyseal chondrodysplasia, McKusick type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Acrofrontofacionasal dysostosis type 2 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Is a True Hereditary disorder 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 True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Dyggve-Melchior-Clausen syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Trichorhinophalangeal syndrome type 1 and 3 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant progressive external ophthalmoplegia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive progressive external ophthalmoplegia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary camptodactyly (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary myopathy associated with hydrocephalus Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Pseudohypoparathyroidism type I A Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Familial x-linked hypophosphatemic vitamin D refractory rickets Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Achondroplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Huntington's chorea Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta type I (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Short rib polydactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Lethal Kniest-like syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Kniest dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Otospondylomegaepiphyseal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Proteus syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Rolland-Debuqois syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Blount disease Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly type D (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A congenital malformation characterized by shortening of the middle phalanx of the fifth finger. Inherited as an autosomal dominant trait. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Crouzon syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Goldberg Shprintzen megacolon syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Bilateral microtia with deafness and cleft palate syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Familial median cleft of upper and lower lip Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Abruzzo Erickson syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Ablepharon macrostomia syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus cleft palate syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Lethal omphalocele with cleft palate syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Kapur Toriello syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Bamforth Lazarus syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterised by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalised bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Cleft lip retinopathy syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Zlotogora Ogur syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
XY type gonadal dysgenesis with associated anomalies syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Bifid nose (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Cleft palate, large ears, small head syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
X-linked cleft palate and ankyloglossia (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
de Barsey syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Distal arthrogryposis type 3 (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Saethre-Chotzen syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Genochondromatosis type 1 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta type 5 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Dysmorphic sialidosis, infantile form (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A very rare disorder belonging to the heterogeneous group of genetic fibromatoses and with characteristics of progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid and adrenal glands. Caused by mutations in anthrax toxin receptor 2 gene (ANTRX2) on chromosome 4q21. Transmitted as an autosomal recessive trait. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency is characterized by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Curry-Hall syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group. Clinical signs include slowly developing intellectual disability beginning with clumsiness, late speech, and hyperkinesia, mild facial dysmorphism, and slight kyphoscoliosis. Caused by mutations in gene AGU located on 4q34.3. Transmission is autosomal recessive. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Familial hypokalemic periodic paralysis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Floating-Harbor syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Acromesomelic dysplasia Hunter-Thompson type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Familial calcium pyrophosphate dihydrate crystal deposition disease Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Proximal interphalangeal joint symphalangism Cushing type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia with anaemia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Chondrodysplasia punctata, X-linked dominant type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Chondrodysplasia punctata, X-linked recessive type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A rare complex hereditary spastic paraplegia characterised by neonatal to infantile onset of progressive spasticity in the lower limbs, hyperreflexia, tip-toe walking, pes equinus, and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients, and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability, language impairment, and moderate upper limb involvement. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic skeletal muscle disease characterized by neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. Progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities have been reported in addition. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
SIX2-related frontonasal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Prenatal-onset spinal muscular atrophy with congenital bone fractures Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Allan-Herndon-Dudley syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 30 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Severe X-linked myotubular myopathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
NIMA related kinase 9 lethal skeletal dysplasia (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Glycogen storage disease due to lactate dehydrogenase deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Sugarman brachydactyly (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, epilepsy, extrapyramidal syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Seizures, scoliosis, macrocephaly syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)

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