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105986008: Congenital skeletal dysplasia (disorder)

Status: current, 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
170405012 Skeletal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
576961012 Congenital skeletal dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2764211017 Congenital skeletal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3758347014 Osteochondrodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3758348016 Osteodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
170405012 Skeletal dysplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
170405012 Skeletal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
576961012 Congenital skeletal dysplasia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
576961012 Congenital skeletal dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2764211017 Congenital skeletal dysplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2764211017 Congenital skeletal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3758347014 Osteochondrodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3758348016 Osteodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4740591000241119 dysplasie squelettique congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4740591000241119 dysplasie squelettique congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

650 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Skeletal dysplasia Is a Disorder of skeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Skeletal dysplasia Is a Congenital anomaly of skeletal bone false Inferred relationship Existential restriction modifier (core metadata concept)
Skeletal dysplasia Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Skeletal dysplasia Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Skeletal dysplasia Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Skeletal dysplasia Finding site Skeletal system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Skeletal dysplasia Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Skeletal dysplasia Is a Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Skeletal dysplasia Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Skeletal dysplasia Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Skeletal dysplasia Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Skeletal dysplasia Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Skeletal dysplasia Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Skeletal dysplasia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Skeletal dysplasia Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Skeletal dysplasia Is a Congenital anomaly of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Hypochondroplasia Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Mesomelic dysplasia Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Dysostosis Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Defects of the tubular (and flat) bones and/or axial skeleton Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Epiphyseal dysplasia (disorder) Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Brachyrachia (short spine dysplasia) Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Dysplasias with significant membranous bone involvement Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Multiple dislocations with dysplasia (disorder) Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Osteodysplastic primordial dwarfism Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Dysplasia with decreased bone density Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Dysplasia with defective mineralization Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Dysplasia with increased bone density Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Disorganised development of cartilaginous and fibrous components of the skeleton Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Idiopathic osteolyses Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Spondylodysplastic group (disorder) Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Short rib dysplasia group (with or without polydactyly) Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Kniest-Stickler dysplasia group Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia congenita group (disorder) Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Chondrodysplasia punctata Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Bent bone dysplasia group Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Dysostosis multiplex group Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Acromesomelic dysplasia group (disorder) Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
chondrodysplasie ponctuée congénitale Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Nail-patella syndrome (disorder) Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Metatropic dysplasia (disorder) Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Achondrogenesis Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Bone island Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Ectopic bone tissue, congenital Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Metaphyseal chondrodysplasia Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Weill-Marchesani syndrome Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Greig cephalopolysyndactyly syndrome (disorder) Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia congenita Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Leri's pleonosteosis syndrome Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Atelosteogenesis Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Osteochondrodysplasia with osteopetrosis (disorder) Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Beals auriculo-osteodysplasia syndrome Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Multiple synostosis syndrome Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Antley-Bixler syndrome Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Accessory ossification center (disorder) Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly syndrome type E Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Miller syndrome Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Baller-Gerold syndrome Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Chondrodysplasia (disorder) Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Osteodysplasia Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Symphalangism-brachydactyly syndrome Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hip dysplasia (disorder) Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Osteoplastic dysplasia Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia with anaemia Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome (disorder) Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder) Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Vitamin D-dependent rickets, type 1 Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Vitamin D-dependent rickets, type 2 (disorder) Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myositis ossificans Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Kyphosis in skeletal dysplasia Associated with True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Diaphyseal dysplasia with anaemia Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder) Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Chondroectodermal dysplasia (disorder) Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Cherubism with gingival fibromatosis (disorder) Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Hajdu-Cheney syndrome Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Scoliosis in skeletal dysplasia Associated with True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Lordosis in skeletal dysplasia Associated with False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
3-M syndrome Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Tarsal-carpal coalition syndrome Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hip dysplasia (disorder) Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Osteoarthritis of hip due to dysplasia (disorder) Due to True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Rhizomelic dysplasia of Patterson Lowry type (disorder) Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Skeletal dysplasia with epilepsy and short stature syndrome (disorder) Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Defects of tubular bones and spine (disorder) Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly syndrome Guadalajara type 2 Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Craniofacial conodysplasia syndrome (disorder) Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Frank-Ter Haar syndrome Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Angel-shaped phalangoepiphyseal dysplasia (disorder) Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990. Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Caudal regression syndrome Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Scholte syndrome Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Ballard syndrome (disorder) Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Osteocraniostenosis (disorder) Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Craniolenticulosutural dysplasia (disorder) Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy, microcephaly, skeletal dysplasia syndrome Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloperipheral dysplasia (disorder) Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder) Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Parietal foramina with clavicular hypoplasia Is a True Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome cardiac valvular type Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome musculocontractural type (disorder) Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic type Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
syndrome d'Ehlers-Danlos type vasculaire-like Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Brittle cornea syndrome (disorder) Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)
Holoprosencephaly with caudal dysgenesis syndrome Is a False Skeletal dysplasia Inferred relationship Existential restriction modifier (core metadata concept)

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