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109420003: Dysostosis (disorder)

Status: current, Not 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
173981011 Dysostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
611787016 Dysostosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
173981011 Dysostosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
173981011 Dysostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
611787016 Dysostosis (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
611787016 Dysostosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
907271000172119 dysostose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
907271000172119 dysostose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

107 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dysostosis Is a Skeletal dysplasia true Inferred relationship Existential restriction modifier (core metadata concept)
Dysostosis Finding site Skeletal system structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Dysostosis Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dysostosis Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dysostosis Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Dysostosis Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Dysostosis Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Dysostosis Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Dysostosis Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Dysostosis Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Dysostosis Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Dysostosis Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dysostosis Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dysostosis Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Fronto-frontal dysostosis Is a False Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Fronto-naso-ethmoidal dysostosis Is a False Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Spheno-frontal dysostosis Is a False Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Mandibuloacral dysostosis Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Dysostosis of bone of skull Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Acrodysostosis Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
syndrome ischio-vertébral Is a False Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant spondylocostal dysostosis (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Progressive non-infectious anterior vertebral fusion (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterised by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
X-linked mandibulofacial dysostosis Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Ulna fibula ray defect and brachydactyly syndrome (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Acropectorovertebral dysplasia Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Acrofacial dysostosis Catania type (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Acrofacial dysostosis Kennedy Teebi type (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Acrofacial dysostosis Palagonia type (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Acrofacial dysostosis Rodriguez type (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969. Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Cerebro-facio-thoracic dysplasia (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Coxopodopatellar syndrome (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Filippi syndrome (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Holt-Oram syndrome Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Heart-hand syndrome type 2 (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterised by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Heart-hand syndrome Slovenian type (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Oliver syndrome Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Oculootoradial syndrome (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Catel Manzke syndrome Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Fuhrmann syndrome Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
A rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Patterson Stevenson Fontaine syndrome (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Melhem Fahl syndrome Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Long thumb brachydactyly syndrome (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic bone disorder characterised by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling. Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Carney complex, trismus, pseudocamptodactyly syndrome (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Tetramelic monodactyly (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Postaxial tetramelic oligodactyly Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Imperforate oropharynx, costovertebral anomalies syndrome (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Ectrodactyly polydactyly syndrome (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Hallux varus, preaxial polysyndactyly syndrome (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Absent radius, anogenital anomalies syndrome (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Teebi Shaltout syndrome Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Thrombocythemia with distal limb defect Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Schwere früh-beginnende Adipositas mit Insulin-Resistenz-Syndrom durch SH2B1-Mangel Is a False Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic dysostosis disorder with characteristics of brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984. Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Naso-maxillary dysostosis Is a False Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Dysostose, periphere Is a False Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Temtamy preaxial brachydactyly syndrome (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly, short stature, retinitis pigmentosa syndrome Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Pelvic dysplasia, arthrogryposis of lower limbs syndrome (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Radial deficiency, tibial hypoplasia syndrome Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Syndactyly, polydactyly, ear lobe syndrome (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Nail-patella syndrome (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Jarcho-Levin syndrome Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Klippel-Feil sequence (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Cerebro-costo-mandibular syndrome Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Sugarman brachydactyly (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Eye defects, arachnodactyly, cardiopathy syndrome Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
A rare mandibulofacial dysostosis characterized by the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism, and eyelid anomalies, among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction, and conductive hearing loss. Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)
Femur fibula ulna complex (disorder) Is a True Dysostosis Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

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