715470008: Brachydactylous dwarfism Mseleni type (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\Brachydactylous dwarfism Mseleni type
\Musculoskeletal finding\Joint finding\Arthropathy\Brachydactylous dwarfism Mseleni type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Brachydactylous dwarfism Mseleni type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Brachydactylous dwarfism Mseleni type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\Brachydactylous dwarfism Mseleni type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Brachydactylous dwarfism Mseleni type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Brachydactylous dwarfism Mseleni type

\Disease\Disorder of joint region\Arthropathy\Brachydactylous dwarfism Mseleni type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Brachydactylous dwarfism Mseleni type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Brachydactylous dwarfism Mseleni type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\Brachydactylous dwarfism Mseleni type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Brachydactylous dwarfism Mseleni type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Brachydactylous dwarfism Mseleni type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Brachydactylous dwarfism Mseleni type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Brachydactylous dwarfism Mseleni type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Chondrodysplasia\Brachydactylous dwarfism Mseleni type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Chondrodysplasia\Brachydactylous dwarfism Mseleni type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Chondrodysplasia\Brachydactylous dwarfism Mseleni type

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3302736011 Mseleni joint disease en Synonym Active Case sensitive SNOMED CT core

3302737019 Brachydactylous dwarfism Mseleni type en Synonym Active Initial character case insensitive SNOMED CT core

3303059015 Brachydactylous dwarfism Mseleni type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachydactylous dwarfism Mseleni type	Pathological process	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	Congenital dysplasia	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	Pathological developmental process	true	Inferred relationship	Some	2
Brachydactylous dwarfism Mseleni type	Is a	Chondrodysplasia	true	Inferred relationship	Some
Brachydactylous dwarfism Mseleni type	Is a	Arthropathy	true	Inferred relationship	Some
Brachydactylous dwarfism Mseleni type	Finding site	Joint structure	true	Inferred relationship	Some	1
Brachydactylous dwarfism Mseleni type	Associated morphology	Congenital dysplasia	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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3302736011	Mseleni joint disease	en	Synonym	Active	Case sensitive	SNOMED CT core
3302737019	Brachydactylous dwarfism Mseleni type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3303059015	Brachydactylous dwarfism Mseleni type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core