715470008: Brachydactylous dwarfism Mseleni type (disorder)

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

\Finding by site\Finding of body region\Disorder of joint region\Arthropathy (disorder)\Brachydactylous dwarfism Mseleni type
\Finding by site\Finding of body region\Joint finding\Arthropathy (disorder)\Brachydactylous dwarfism Mseleni type
\Finding by site\Disorder by body site (disorder)\Disorder of joint region\Arthropathy (disorder)\Brachydactylous dwarfism Mseleni type
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Brachydactylous dwarfism Mseleni type
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Brachydactylous dwarfism Mseleni type
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Brachydactylous dwarfism Mseleni type
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Brachydactylous dwarfism Mseleni type
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Brachydactylous dwarfism Mseleni type
\Finding by site\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Brachydactylous dwarfism Mseleni type
\Finding by site\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Brachydactylous dwarfism Mseleni type
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Brachydactylous dwarfism Mseleni type
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Brachydactylous dwarfism Mseleni type
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Brachydactylous dwarfism Mseleni type
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Brachydactylous dwarfism Mseleni type
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Brachydactylous dwarfism Mseleni type

\Disease\Disorder by body site (disorder)\Disorder of joint region\Arthropathy (disorder)\Brachydactylous dwarfism Mseleni type
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Brachydactylous dwarfism Mseleni type
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Brachydactylous dwarfism Mseleni type
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Brachydactylous dwarfism Mseleni type
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Brachydactylous dwarfism Mseleni type
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Brachydactylous dwarfism Mseleni type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Brachydactylous dwarfism Mseleni type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Brachydactylous dwarfism Mseleni type
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Brachydactylous dwarfism Mseleni type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Chondrodysplasia (disorder)\Brachydactylous dwarfism Mseleni type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia (disorder)\Brachydactylous dwarfism Mseleni type

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
3302736011	Mseleni joint disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
3302737019	Brachydactylous dwarfism Mseleni type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3303059015	Brachydactylous dwarfism Mseleni type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3302738012	A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, with features of bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints. Manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short stature and brachydactyly has been reported in a few patients with the disorder.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3856771000052112	brakydaktyli, Mselenityp	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachydactylous dwarfism Mseleni type	Is a	Chondrodysplasia (disorder)	true	Inferred relationship	Some
Brachydactylous dwarfism Mseleni type	Is a	Arthropathy (disorder)	true	Inferred relationship	Some
Brachydactylous dwarfism Mseleni type	Finding site	Joint structure	true	Inferred relationship	Some	1
Brachydactylous dwarfism Mseleni type	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	3
Brachydactylous dwarfism Mseleni type	Occurrence	Congenital	false	Inferred relationship	Some	3
Brachydactylous dwarfism Mseleni type	Finding site	Bone structure	false	Inferred relationship	Some	3
Brachydactylous dwarfism Mseleni type	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Brachydactylous dwarfism Mseleni type	Occurrence	Congenital	false	Inferred relationship	Some	1
Brachydactylous dwarfism Mseleni type	Finding site	Bone structure	false	Inferred relationship	Some	1
Brachydactylous dwarfism Mseleni type	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Brachydactylous dwarfism Mseleni type	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Brachydactylous dwarfism Mseleni type	Finding site	Bone structure	true	Inferred relationship	Some	2
Brachydactylous dwarfism Mseleni type	Occurrence	Congenital	true	Inferred relationship	Some	2
Brachydactylous dwarfism Mseleni type	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start