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363212003: Hereditary disorder of musculoskeletal system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
482352016 Hereditary disorder of musculoskeletal system en Synonym Active Entire term case insensitive SNOMED CT core module
755010013 Hereditary disorder of musculoskeletal system (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

948 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 true Inferred relationship Existential restriction modifier
Hereditary disorder of musculoskeletal system Is a Hereditary disorder by system true Inferred relationship Existential restriction modifier
Hereditary disorder of musculoskeletal system Finding site Structure of musculoskeletal system true Inferred relationship Existential restriction modifier 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
Nestor Guillermo progeria syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Craniosynostosis and dental anomalies syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Mandibular hypoplasia, deafness, progeroid syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Roifman syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Childhood-onset spasticity with hyperglycinemia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Lethal occipital encephalocele, skeletal dysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Craniofacial dysplasia osteopenia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
X-linked myopathy with postural muscle atrophy Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Spondylo-megaepiphyseal-metaphyseal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Sterile multifocal osteomyelitis with periostitis and pustulosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Pyknodysostosis Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Osteopetrosis hypogammaglobulinemia syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Peripheral dysostosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Polyglucosan body myopathy type 1 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Temtamy preaxial brachydactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Brachytelephalangic chondrodysplasia punctata Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Autosomal dominant prognathism of mandible Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Fibroblast growth factor receptor 2-related bent bone dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome due to tenascin-X deficiency Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Cystinuria, type 1 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Autosomal recessive cutis laxa type 2B Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Acroosteolysis, keloid-like lesions, premature aging syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Stewart-Morel-Morgagni syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
X-linked osteoporosis with fractures Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Brachydactyly, short stature, retinitis pigmentosa syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Chondrodysplasia with joint dislocations gPAPP type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Fatal infantile hypertonic myofibrillar myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
High bone mass osteogenesis imperfecta Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
X-linked calvarial hyperostosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Extensor tendons of finger anomalies Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Thoracic dysplasia and hydrocephalus syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Richieri Costa-da Silva syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Parana hard skin syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Leigh syndrome with nephrotic syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Holzgreve syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Stickler syndrome type 3 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Thoracomelic dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Hereditary progressive muscular dystrophy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Osteopetrosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Osteosclerosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Reunion Island Larsen-like syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Autosomal recessive brachyolmia Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
External auditory canal atresia, vertical talus, hypertelorism syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Alpha-B crystallin-related late-onset myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Spondylometaphyseal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Otopalatodigital syndrome spectrum disorder Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Autosomal recessive cutis laxa type 2A Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Aneurysm osteoarthritis syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Distal arthrogryposis type 4 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Arthrogryposis and ectodermal dysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Polydactyly of triphalangeal thumb Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Triphalangeal thumb and polysyndactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Triphalangeal thumb with brachyectrodactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
X-linked dominant chondrodysplasia punctata of Happle Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Lethal multiple pterygium syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Intellectual disability, developmental delay, contracture syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Congenital lethal myopathy Compton North type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Pelvic dysplasia, arthrogryposis of lower limbs syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Genetically determined myasthenia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Muenke syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Osteopathia striata, pigmentary dermopathy, white forelock syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Amyotonia congenita Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Hereditary acroosteolysis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Inherited spastic paresis Is a False Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Fibrochondrogenesis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Dysplasia epiphysealis hemimelica Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Metachondromatosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Schwartz-Jampel syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Juvenile hyaline fibromatosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Pseudodiastrophic dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Brachyolmia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Saldino-Mainzer dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Desbuquois syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Francois syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Blomstrand dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Raine dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Carpotarsal osteochondromatosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Jarcho-Levin syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Larsen syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Seckel syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Diastrophic dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Cutis laxa, x-linked Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Asymmetric crying face association Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier
Desmosterolosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Existential restriction modifier

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