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
Camptodactyly taurinuria syndrome (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Jeune thoracic dystrophy (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Exostosis, anetoderma, brachydactyly type E syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Long thumb brachydactyly syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Acrocephalopolysyndactyly type II (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Skeletal dysplasia brachydactyly syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Van den Bosch syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
acrocefalopolysyndactylie type 4	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Summitt-syndroom	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
46,XX disorder of sex development with skeletal anomalies syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
SCARF syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Vitamin D-dependent rickets	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Goldenhar syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Congenital myopathy with myasthenic-like onset (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Connective tissue disorder due to lysyl hydroxylase-3 deficiency	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Lethal congenital contracture syndrome type 5	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Familial dyskinesia and facial myokymia (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Cerebrofacioarticular syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Velofacioskeletal syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
White forelock with malformations syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Dislocation of hip and facial dysmorphism syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Larsen-like syndrome B3GAT3 type	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Keipert syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Spondyloperipheral dysplasia (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Handigodu type	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Myosclerosis (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Brachydactyly elbow wrist dysplasia (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia anauxetic type (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Progressive external ophthalmoplegia, myopathy, emaciation syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Congenital myopathy with internal nuclei and atypical cores (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
King Denborough syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Intellectual disability, myopathy, short stature, endocrine defect syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Muscle filaminopathy	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Spheroid body myopathy	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Dyssegmental dysplasia Silverman Handmaker type (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Lethal infantile mitochondrial myopathy (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Metabolic myopathy due to lactate transporter defect	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Cono-spondylar dysplasia (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia with multiple dislocations	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Multicentric carpotarsal osteolysis syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Otopalatodigital syndrome	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Late-onset distal myopathy Markesbery Griggs type (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Desmin-related myofibrillar myopathy (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Brachydactyly type B2 (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
X-linked spondyloepimetaphyseal dysplasia (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Choanal atresia with radial ray hypoplasia	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
X-linked parkinsonism with spasticity syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Hereditary inclusion body myopathy type 4 (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Proximal myopathy with extrapyramidal signs	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Tall stature, scoliosis, macrodactyly of great toe syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Distal muscular dystrophy	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Tetramelic monodactyly	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Rhizomelic syndrome Urbach type	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Dentin dysplasia with sclerotic bone syndrome	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Postaxial tetramelic oligodactyly	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Ectrodactyly polydactyly syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Hallux varus, preaxial polysyndactyly syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Absent radius, anogenital anomalies syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Parietal foramina with clavicular hypoplasia	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Autosomal dominant muscular dystrophy with limb girdle distribution	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Digital extensor muscle aplasia with polyneuropathy (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Axial spondylometaphyseal dysplasia (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Teebi Shaltout syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Autosomal recessive lower motor neuron disease with childhood onset	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Thrombocythemia with distal limb defect (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Ehlers-Danlos syndrome classic type (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Arthrochalasia Ehlers-Danlos syndrome (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
syndroom van Ehlers-Danlos met periventriculaire heterotopie	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Ehlers-Danlos syndrome cardiac valvular type (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Ehlers-Danlos and osteogenesis imperfecta syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Ehlers-Danlos syndrome progeroid type (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Ehlers-Danlos syndrome kyphoscoliotic type (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Ehlers-Danlos syndrome vascular-like type	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Brittle cornea syndrome (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Ehlers-Danlos syndrome spondylocheirodysplastic type	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Postaxial polydactyly, dental, vertebral anomalies syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
spondylo-epimetafysaire dysplasie type Bieganski	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Spondylometaphyseal dysplasia Golden type (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Genevieve type (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Zechi Ceide syndrome	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)