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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
Zechi Ceide syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Nestor Guillermo progeria syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and dental anomalies syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Mandibular hypoplasia, deafness, progeroid syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Roifman syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Childhood-onset spasticity with hyperglycinemia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Schwere früh-beginnende Adipositas mit Insulin-Resistenz-Syndrom durch SH2B1-Mangel Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic developmental defect during embryogenesis disorder with characteristics of craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. There is evidence the disease can be caused by homozygous mutation in the IRX5 gene on chromosome 16q11.2. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically neck rigidity, rigid spine, Achilles tendon shortening and respiratory insufficiency later in disease course are present. The phenotype is caused by mutation in the FHL1 gene. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Spondylo-megaepiphyseal-metaphyseal dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Pyknodysostosis (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Osteopetrosis hypogammaglobulinemia syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Dysostose, periphere Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Polyglucosan body myopathy type 1 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Temtamy preaxial brachydactyly syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Brachytelephalangic chondrodysplasia punctata (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant prognathism of mandible (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome due to tenascin-X deficiency Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Cystinuria, type 1 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cutis laxa type 2B Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Acroosteolysis, keloid-like lesions, premature ageing syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Stewart-Morel-Morgagni syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
X-linked osteoporosis with fractures Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly, short stature, retinitis pigmentosa syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Chondrodysplasia with joint dislocations gPAPP type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic skeletal muscle disease with characteristics of muscle stiffness and rigidity, hypertonia, weakness, respiratory distress and normal cognition. Patients have persistently elevated creatine kinase and histopathology is typical of myofibrillar myopathy. The manifestation onset follows the short period of normal infantile development and leads to progressive respiratory insufficiency and early death. There is the disease is caused by homozygous mutation in the CRYAB gene on chromosome 11q23. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
High bone mass osteogenesis imperfecta Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
X-linked calvarial hyperostosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Extensor tendons of finger anomalies (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Thoracic dysplasia and hydrocephalus syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Richieri Costa-da Silva syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
DNA2-related mitochondrial DNA deletion syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Parana hard skin syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Leigh-Syndrom mit nephrotischem Syndrom Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Holzgreve syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome type 3 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Thoracomelic dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary progressive muscular dystrophy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Osteopetrosis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Osteosclerosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Reunion Island Larsen-like syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive brachyolmia (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Alpha-B crystallin-related late-onset myopathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cutis laxa type 2A Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Aneurysm osteoarthritis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Distal arthrogryposis type 4 (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Polydactyly of triphalangeal thumb (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Triphalangeal thumb and polysyndactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
X-linked dominant chondrodysplasia punctata of Happle Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Lethal multiple pterygium syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, developmental delay, contracture syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic lethal non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed. There is evidence this disease is caused by homozygous mutation in the CNTN1 gene on chromosome 12q12. Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Pelvic dysplasia, arthrogryposis of lower limbs syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Genetically determined myasthenia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Muenke syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Amyotonia congenita (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary acroosteolysis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Inherited spastic paresis Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Fibrochondrogenesis is a rare neonatally lethal rhizomelic chondrodysplasia. The face is distinctive with characteristics of protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins has been reported. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Dysplasia epiphysealis hemimelica (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Metachondromatosis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Schwartz-Jampel syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile hyaline fibromatosis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Pseudodiastrophic dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Brachyolmia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Saldino-Mainzer dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Desbuquois syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Francois syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Blomstrand dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Raine dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder with characteristics of abnormal bone proliferation and osteochondromas in the upper and lower limbs. Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Jarcho-Levin syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Larsen syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Seckel syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Diastrophic dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Cutis laxa, x-linked Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de Cayler Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)
Desmosterolosis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier (core metadata concept)

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