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
Oto-palato-digital syndrome, type I	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Oculootoradial syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Ballard syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Catel Manzke syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Skeletal dysplasia with intellectual disability syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Fuhrmann syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Osteocraniostenosis (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie (aandoening)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Pacman dysplasia (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Severe X-linked mitochondrial encephalomyopathy (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Agnathia, holoprosencephaly, situs inversus syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Distal limb deficiency with micrognathia syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
syndroom van dyschondrosteose en nefritis	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Macular coloboma, cleft palate, hallux valgus syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Thickened earlobe with conductive deafness syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Familial caudal dysgenesis (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Parastremmatic dwarfism (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Endocrine-cerebro-osteodysplasia syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Kozlowski spondylometaphyseal dysplasia	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Microbrachycephaly, ptosis, cleft lip syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Terminal osseous dysplasia and pigmentary defect syndrome (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Muscular dystrophy Selcen type (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Native American myopathy	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Talo-patello-scaphoid osteolysis syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Thoracolaryngopelvic dysplasia	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Grant syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Schimke immuno-osseous dysplasia (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Patterson Stevenson Fontaine syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Infantile malignant osteopetrosis	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Mitochondrial myopathy with sideroblastic anemia syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
8q13 microdeletion syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Laryngeal abductor paralysis with intellectual disability syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Keutel syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Hypospadias, hypertelorism, coloboma, deafness syndrome	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Hypertelorism Teebi type (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Familial scaphocephaly syndrome McGillivray type (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Autosomal dominant osteopetrosis type 2 (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Cryptomicrotia brachydactyly syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Crisponi syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Craniomicromelic syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Craniometadiaphyseal dysplasia wormian bone type (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Craniolenticulosutural dysplasia (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Congenital short costocoracoid ligament (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Omodysplasia (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Familial Scheuermann disease (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Genochondromatosis type 2 (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Short rib polydactyly syndrome type I (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Spastic paraplegia with Paget disease of bone syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Familial chondromalacia of patella (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Short stature locking fingers syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Coxoauricular syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Bone dysplasia lethal Holmgren type (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Craniosynostosis fibular aplasia syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Cyprus facial neuromusculoskeletal syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Symphalangism with multiple anomalies of hands and feet syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Brachydactyly and distal symphalangism syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Brachydactyly and preaxial hallux varus syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Congenital hypoplasia of ulna and split foot syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Camptobrachydactyly (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Trigonocephaly, short stature, developmental delay syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Banki syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Triphalangeal thumb and dislocation of patella syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Camptodactyly taurinuria syndrome (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some

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Reference Sets

Description inactivation indicator reference set

Back to Start

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)