766992008: Multicentric carpotarsal osteolysis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Multicentric carpotarsal osteolysis syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Degenerative disorder of bone\Osteolysis\Idiopathic osteolyses\Multicentric carpotarsal osteolysis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Multicentric carpotarsal osteolysis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteolysis\Idiopathic osteolyses\Multicentric carpotarsal osteolysis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Multicentric carpotarsal osteolysis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Degenerative disorder of bone\Osteolysis\Idiopathic osteolyses\Multicentric carpotarsal osteolysis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Multicentric carpotarsal osteolysis syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Multicentric carpotarsal osteolysis syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Multicentric carpotarsal osteolysis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Multicentric carpotarsal osteolysis syndrome
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteolysis\Idiopathic osteolyses\Multicentric carpotarsal osteolysis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Multicentric carpotarsal osteolysis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Multicentric carpotarsal osteolysis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteolysis\Idiopathic osteolyses\Multicentric carpotarsal osteolysis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Multicentric carpotarsal osteolysis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Degenerative disorder of bone\Osteolysis\Idiopathic osteolyses\Multicentric carpotarsal osteolysis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Multicentric carpotarsal osteolysis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Multicentric carpotarsal osteolysis syndrome
\Disease\Idiopathic disease\Idiopathic osteolyses\Multicentric carpotarsal osteolysis syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Multicentric carpotarsal osteolysis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Multicentric carpotarsal osteolysis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Multicentric carpotarsal osteolysis syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3663608017 Multicentric carpotarsal osteolysis syndrome en Synonym Active Case insensitive SNOMED CT core

3663609013 Multicentric carpotarsal osteolysis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3663610015 A very rare syndrome with characteristics of progressive loss of bone usually of the carpal and tarsal bones resulting in deformity and disability and accompanied by chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities. There is evidence the disease is caused by heterozygous mutation in the MAFB gene on chromosome 20q12. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Multicentric carpotarsal osteolysis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Multicentric carpotarsal osteolysis syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Multicentric carpotarsal osteolysis syndrome	Associated morphology	Osteolysis	true	Inferred relationship	Some	1
Multicentric carpotarsal osteolysis syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Multicentric carpotarsal osteolysis syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Multicentric carpotarsal osteolysis syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Multicentric carpotarsal osteolysis syndrome	Is a	Idiopathic osteolyses	true	Inferred relationship	Some
Multicentric carpotarsal osteolysis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Multicentric carpotarsal osteolysis syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Multicentric carpotarsal osteolysis syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Multicentric carpotarsal osteolysis syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some

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
3663608017	Multicentric carpotarsal osteolysis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3663609013	Multicentric carpotarsal osteolysis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3663610015	A very rare syndrome with characteristics of progressive loss of bone usually of the carpal and tarsal bones resulting in deformity and disability and accompanied by chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities. There is evidence the disease is caused by heterozygous mutation in the MAFB gene on chromosome 20q12.	en	Definition	Active	Case sensitive	SNOMED CT core