FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.21 | FHIR Version n/a User: [n/a]

105986008: Congenital skeletal dysplasia (disorder)

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

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Disorder of skeletal system\Skeletal dysplasia

\Congenital anomaly of musculoskeletal system\Skeletal dysplasia

\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia
\Disease\Developmental 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	Some
Skeletal dysplasia	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
Skeletal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some
Skeletal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Skeletal dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	1
Skeletal dysplasia	Finding site	Skeletal system structure	true	Inferred relationship	Some	1
Skeletal dysplasia	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Skeletal dysplasia	Is a	Congenital malformation	false	Inferred relationship	Some
Skeletal dysplasia	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Skeletal dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	1
Skeletal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	2
Skeletal dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	2
Skeletal dysplasia	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Skeletal dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Skeletal dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Skeletal dysplasia	Is a	Congenital anomaly of musculoskeletal system	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Holoprosencephaly with caudal dysgenesis syndrome (disorder)	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Pyknoachondrogenesis (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Patella dysplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Familial osteodysplasia Anderson type (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Brachydactyly elbow wrist dysplasia (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Winchester syndrome	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Osteogenesis imperfecta	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Spondylometaphyseal dysplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Otopalatodigital syndrome spectrum disorder	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Developmental dislocation of ankle and/or foot (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Developmental dislocation of joint of shoulder region (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Occipital dysplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Saldino-Mainzer dysplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Osteoarthritis of left hip joint due to dysplasia (disorder)	Due to	True	Skeletal dysplasia	Inferred relationship	Some	2
Osteoarthritis of right hip joint due to dysplasia	Due to	True	Skeletal dysplasia	Inferred relationship	Some	2
Seckel syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Cutis laxa, x-linked	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Marshall-Smith syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Coxoauricular syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Short rib dysplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Stickler syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Lethal Kniest-like syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Kniest dysplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Kniest-Stickler dysplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Thin ribs, tubular bones, dysmorphism syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Proteus syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Congenital dysplasia of bone caused by drug	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Osteosclerosis - Stanescu type	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Congenital glenoid dysplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Craniofrontonasal dysplasia (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Kosaki overgrowth syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
NEK9-related lethal skeletal dysplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Lordosis deformity of spine due to congenital skeletal dysplasia	Due to	True	Skeletal dysplasia	Inferred relationship	Some	2

Start Page 2 of 2

This concept is not in any reference sets

Back to Start

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
1945551000052116	skelettdysplasi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)