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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

950 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 Some
Hereditary disorder of musculoskeletal system Is a Hereditary disorder by system true Inferred relationship Some
Hereditary disorder of musculoskeletal system Finding site Structure of musculoskeletal system (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Zechi Ceide syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Nestor Guillermo progeria syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniosynostosis and dental anomalies syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Roifman syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Childhood-onset spasticity with hyperglycinemia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Craniofacial dysplasia osteopenia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked myopathy with postural muscle atrophy (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondylo-megaepiphyseal-metaphyseal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Pyknodysostosis Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteopetrosis hypogammaglobulinemia syndrome (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Peripheral dysostosis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Polyglucosan body myopathy type 1 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Temtamy preaxial brachydactyly syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachytelephalangic chondrodysplasia punctata (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal dominant prognathism of mandible (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Classical-like Ehlers-Danlos syndrome type 1 Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Cystinuria, type 1 Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal recessive cutis laxa type 2B Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Acroosteolysis, keloid-like lesions, premature ageing syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Stewart-Morel-Morgagni syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked osteoporosis with fractures Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Chondrodysplasia with joint dislocations gPAPP type (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Fatal infantile hypertonic myofibrillar myopathy (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
High bone mass osteogenesis imperfecta Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked calvarial hyperostosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Extensor tendons of finger anomalies (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Thoracic dysplasia and hydrocephalus syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Richieri Costa-da Silva syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
DNA2-related mitochondrial DNA deletion syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Parana hard skin syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Leigh syndrome with nephrotic syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Holzgreve syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Stickler syndrome type 3 (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Thoracomelic dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary progressive muscular dystrophy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteopetrosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteosclerosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Reunion Island Larsen-like syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal recessive brachyolmia (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Alpha-B crystallin-related late-onset myopathy Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Spondylometaphyseal dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Otopalatodigital syndrome spectrum disorder Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Autosomal recessive cutis laxa type 2A (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Multiple congenital anomalies, hypotonia, seizures syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Aneurysm osteoarthritis syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Distal arthrogryposis type 4 (disorder) Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Polydactyly of triphalangeal thumb (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Triphalangeal thumb and polysyndactyly syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Triphalangeal thumb with brachyectrodactyly syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
X-linked dominant chondrodysplasia punctata of Happle Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Lethal multiple pterygium syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Intellectual disability, developmental delay, contracture syndrome (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Congenital lethal myopathy Compton North type Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Pelvic dysplasia, arthrogryposis of lower limbs syndrome Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Genetically determined myasthenia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Muenke syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Osteopathia striata, pigmentary dermopathy, white forelock syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Amyotonia congenita Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Hereditary acroosteolysis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Inherited spastic paresis Is a False Hereditary disorder of musculoskeletal system Inferred relationship Some
Fibrochondrogenesis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Dysplasia epiphysealis hemimelica (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Metachondromatosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Schwartz-Jampel syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Juvenile hyaline fibromatosis Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Pseudodiastrophic dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Brachyolmia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Saldino-Mainzer dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Desbuquois syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Francois syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Blomstrand dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Raine dysplasia (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Carpotarsal osteochondromatosis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Jarcho-Levin syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Larsen syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Seckel syndrome Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Diastrophic dysplasia Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Cutis laxa, x-linked Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Asymmetric crying face association Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some
Desmosterolosis (disorder) Is a True Hereditary disorder of musculoskeletal system Inferred relationship Some

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