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
Desmosterolosis (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Maternally inherited mitochondrial cardiomyopathy and myopathy	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Grebe syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Short rib-polydactyly syndrome, Majewski type	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Marshall-Smith syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Metaphyseal chondrodysplasia, McKusick type	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Acrofrontofacionasal dysostosis type 2	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Treacher Collins syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Dyggve-Melchior-Clausen syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Trichorhinophalangeal syndrome type 1 and 3	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Autosomal dominant progressive external ophthalmoplegia (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Autosomal recessive progressive external ophthalmoplegia	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Hereditary camptodactyly	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Hereditary myopathy associated with hydrocephalus	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Pseudohypoparathyroidism type I A	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Achondroplasia	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Huntington's chorea	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Osteogenesis imperfecta type I (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Short rib polydactyly syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Lethal Kniest-like syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Kniest dysplasia	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Otospondylomegaepiphyseal dysplasia	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Proteus syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Rolland-Debuqois syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Blount disease	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Brachydactyly type D (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Brachydactyly type A3 (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Crouzon syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Goldberg Shprintzen megacolon syndrome (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Bilateral microtia with deafness and cleft palate syndrome (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Familial median cleft of upper and lower lip (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Abruzzo Erickson syndrome	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Ablepharon macrostomia syndrome (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Microcephalus cleft palate syndrome (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Lethal omphalocele with cleft palate syndrome (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Cleft palate with stapes fixation and oligodontia syndrome (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Kapur Toriello syndrome (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Bamforth Lazarus syndrome (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Weaver Williams syndrome (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Cleft lip retinopathy syndrome (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Lowry Yong syndrome	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Bifid nose (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Cleft palate, large ears, small head syndrome	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
X-linked cleft palate and ankyloglossia	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Genitopalatocardiac syndrome	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
de Barsey syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Distal arthrogryposis type 3 (disorder)	Is a	False	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Saethre-Chotzen syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Genochondromatosis type 1 (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Osteogenesis imperfecta type 5 (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Dysmorphic sialidosis, infantile form	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Infantile systemic hyalinosis	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Muscle and heart glycogen synthase deficiency (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Curry-Hall syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Aspartylglucosaminuria	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Familial hypokalemic periodic paralysis	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Floating-Harbour syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Acromesomelic dysplasia Hunter-Thompson type (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Familial calcium pyrophosphate dihydrate crystal deposition disease	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Symphalangism Cushing type	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Diaphyseal dysplasia	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Ghosal hematodiaphyseal dysplasia	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Chondrodysplasia punctata, X-linked dominant type (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Chondrodysplasia punctata, X-linked recessive type	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Craniofrontonasal dysplasia (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
SIX homeobox 2-related frontonasal dysplasia (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Allan-Herndon-Dudley syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Deafness with epiphyseal dysplasia and short stature syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Combined oxidative phosphorylation defect type 30	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Severe X-linked myotubular myopathy (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
NEK9-related lethal skeletal dysplasia	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Glycogen storage disease due to lactate dehydrogenase deficiency	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Sugarman brachydactyly (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Intellectual disability, epilepsy, extrapyramidal syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Seizures, scoliosis, macrocephaly syndrome (disorder)	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some
Short stature, brachydactyly, obesity, global developmental delay syndrome	Is a	True	Hereditary disorder of musculoskeletal system	Inferred relationship	Some

Start Previous Page 7 of 8 End

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)