105986008: Congenital skeletal dysplasia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...

\Disorder of skeletal system\Skeletal dysplasia

\Congenital anomaly of musculoskeletal system\Skeletal dysplasia

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia

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
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
Holoprosencephaly with caudal dysgenesis syndrome	Is a	False	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13.	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Patella dysplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial osteodysplasia Anderson type	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly elbow wrist dysplasia (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Winchester syndrome (disorder)	Is a	False	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa	Is a	False	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Developmental dislocation of ankle and/or foot (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
luxation développementale d'une articulation de la région de l'épaule	Is a	False	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Occipital dysplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Saldino-Mainzer dysplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteoarthritis of left hip joint due to dysplasia (disorder)	Due to	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteoarthritis of right hip joint due to dysplasia	Due to	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Seckel syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Cutis laxa, x-linked	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Marshall-Smith syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Coxoauricular syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Short rib dysplasia (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Stickler syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal Kniest-like syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Kniest dysplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Kniest-Stickler dysplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Thin ribs, tubular bones, dysmorphism syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Proteus syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dysplasia of bone caused by drug	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteosclerosis - Stanescu type	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital glenoid dysplasia	Is a	False	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet.	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Kosaki overgrowth syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
NIMA related kinase 9 lethal skeletal dysplasia (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Lordosis deformity of spine due to congenital skeletal dysplasia (disorder)	Due to	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hallermann Streiff like syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Short stature, advanced bone age, early-onset osteoarthritis syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder)	Is a	False	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteofibrous dysplasia (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteosclerotic metaphyseal dysplasia (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Madelung's deformity	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Rhizomelic dysplasia (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Short stature homeobox related short stature (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Diastrophic dysplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare primary bone dysplasia characterised by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations.	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial articular hypermobility syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type	Associated with	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Congenital dysplasia of joint of knee (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dysplasia of joint of shoulder region	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dysplasia of joint of foot	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dysplasia of ankle joint (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)

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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