766992008: Multicentric carpotarsal osteolysis syndrome (disorder)

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

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Multicentric carpotarsal osteolysis syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Degenerative disorder of bone\Osteolysis\Idiopathic osteolyses\Multicentric carpotarsal osteolysis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Multicentric carpotarsal osteolysis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteolysis\Idiopathic osteolyses\Multicentric carpotarsal osteolysis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Multicentric carpotarsal osteolysis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Osteolysis\Idiopathic osteolyses\Multicentric carpotarsal osteolysis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Multicentric carpotarsal osteolysis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteolysis\Idiopathic osteolyses\Multicentric carpotarsal osteolysis syndrome
\Disease\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\Multicentric carpotarsal osteolysis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Osteolysis\Idiopathic osteolyses\Multicentric carpotarsal osteolysis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\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 (disorder)\Congenital anomaly of skeletal bone\Multicentric carpotarsal osteolysis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Multicentric carpotarsal osteolysis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Multicentric carpotarsal osteolysis syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3663608017 Multicentric carpotarsal osteolysis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3663609013 Multicentric carpotarsal osteolysis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5404727014 A very rare syndrome characterized by progressive loss of bone, usually the carpal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5404728016 A very rare syndrome characterised by progressive loss of bone, usually the carpal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Multicentric carpotarsal osteolysis syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Multicentric carpotarsal osteolysis syndrome	Is a	Connective tissue hereditary disorder (disorder)	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
Multicentric carpotarsal osteolysis syndrome	Pathological process (attribute)	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 (morphologic abnormality)	true	Inferred relationship	Some	1
Multicentric carpotarsal osteolysis syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3663608017	Multicentric carpotarsal osteolysis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3663609013	Multicentric carpotarsal osteolysis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404727014	A very rare syndrome characterized by progressive loss of bone, usually the carpal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404728016	A very rare syndrome characterised by progressive loss of bone, usually the carpal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core