363212003: hereditaire aandoening van bewegingsapparaat (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system

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

Descriptions:

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
syndroom van spondylocostale dysostose, hypospadie en verstandelijke beperking (aandoening)	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
perifere dysostose	Is a	False	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
infantiele subacute necrotiserende encefalopathie met nefrotisch syndroom (aandoening)	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
syndroom van meervoudige gewrichtsluxaties, kleine gestalte, hyperlaxiteit en craniofaciale dysmorfie	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-gebonden dominante chondrodysplasia punctata type 2 (aandoening)	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
hereditaire spastische parese	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'-associatie (aandoening)	Is a	False	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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Reference Sets

Description inactivation indicator reference set

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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
6478101000146116	hereditaire aandoening van bewegingsapparaat (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6478111000146119	erfelijke ziekte van tractus locomotorius	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6478121000146112	erfelijke ziekte van musculoskeletaal stelsel	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6478131000146114	erfelijke ziekte van musculoskeletaal systeem	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6478141000146118	hereditaire aandoening van bewegingsapparaat	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)