725904009: Genochondromatosis type 2 (disorder)

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

\Musculoskeletal finding (finding)\Cartilage finding (finding)\Cartilage disorder\Osteochondropathy\Genochondromatosis type 2 (disorder)
\Musculoskeletal finding (finding)\Cartilage finding (finding)\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis (disorder)\Genochondromatosis type 2 (disorder)
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Genochondromatosis type 2 (disorder)
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Osteochondropathy\Genochondromatosis type 2 (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Genochondromatosis type 2 (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Osteochondropathy\Genochondromatosis type 2 (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis (disorder)\Genochondromatosis type 2 (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis (disorder)\Genochondromatosis type 2 (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Genochondromatosis type 2 (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Osteochondropathy\Genochondromatosis type 2 (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Cartilage disorder\Osteochondropathy\Genochondromatosis type 2 (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis (disorder)\Genochondromatosis type 2 (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis (disorder)\Genochondromatosis type 2 (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis (disorder)\Genochondromatosis type 2 (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Genochondromatosis type 2 (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Genochondromatosis type 2 (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Genochondromatosis type 2 (disorder)
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder\Genochondromatosis type 2 (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Genochondromatosis type 2 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital connective tissue disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis (disorder)\Genochondromatosis type 2 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis (disorder)\Genochondromatosis type 2 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis (disorder)\Genochondromatosis type 2 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Genochondromatosis type 2 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Genochondromatosis type 2 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Genochondromatosis type 2 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Osteochondropathy\Genochondromatosis type 2 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis (disorder)\Genochondromatosis type 2 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis (disorder)\Genochondromatosis type 2 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Genochondromatosis type 2 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Osteochondropathy\Genochondromatosis type 2 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Cartilage disorder\Osteochondropathy\Genochondromatosis type 2 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis (disorder)\Genochondromatosis type 2 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis (disorder)\Genochondromatosis type 2 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis (disorder)\Genochondromatosis type 2 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Genochondromatosis type 2 (disorder)
\Disease\Disorder of connective tissue\Connective tissue hereditary disorder\Genochondromatosis type 2 (disorder)
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis (disorder)\Genochondromatosis type 2 (disorder)
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Osteochondropathy\Genochondromatosis type 2 (disorder)
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis (disorder)\Genochondromatosis type 2 (disorder)
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Genochondromatosis type 2 (disorder)
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Genochondromatosis type 2 (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis (disorder)\Genochondromatosis type 2 (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis (disorder)\Genochondromatosis type 2 (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Genochondromatosis type 2 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3446272018 Genochondromatosis type 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3446273011 Genochondromatosis type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5403500018 Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical, generalized metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403501019 Genochondromatosis type 2 is a rare genetic bone development disorder characterised by normal clavicles and symmetrical, generalised metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3446272018 Genochondromatosis type 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3446273011 Genochondromatosis type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3446274017 A rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3446275016 A rare genetic bone development disorder characterised by normal clavicles and symmetrical generalised metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403500018 Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical, generalized metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403501019 Genochondromatosis type 2 is a rare genetic bone development disorder characterised by normal clavicles and symmetrical, generalised metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3421071001000116 Genochondromatose Typ 2 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

988671000172119 génochondromatose type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

988671000172119 génochondromatose type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3421071001000116 Genochondromatose Typ 2 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Genochondromatosis type 2 (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Genochondromatosis type 2 (disorder)	Is a	Connective tissue hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Genochondromatosis type 2 (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Genochondromatosis type 2 (disorder)	Is a	Genochondromatosis (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Genochondromatosis type 2 (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Genochondromatosis type 2 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Genochondromatosis type 2 (disorder)	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Genochondromatosis type 2 (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Genochondromatosis type 2 (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Genochondromatosis type 2 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Genochondromatosis type 2 (disorder)	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Genochondromatosis type 2 (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Genochondromatosis type 2 (disorder)	Finding site	Cartilage structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Genochondromatosis type 2 (disorder)	Is a	Osteochondropathy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Genochondromatosis type 2 (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Genochondromatosis type 2 (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Genochondromatosis type 2 (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Genochondromatosis type 2 (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

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
3446272018	Genochondromatosis type 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3446273011	Genochondromatosis type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403500018	Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical, generalized metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403501019	Genochondromatosis type 2 is a rare genetic bone development disorder characterised by normal clavicles and symmetrical, generalised metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3446272018	Genochondromatosis type 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3446273011	Genochondromatosis type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3446274017	A rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3446275016	A rare genetic bone development disorder characterised by normal clavicles and symmetrical generalised metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403500018	Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical, generalized metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403501019	Genochondromatosis type 2 is a rare genetic bone development disorder characterised by normal clavicles and symmetrical, generalised metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3421071001000116	Genochondromatose Typ 2	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
988671000172119	génochondromatose type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
988671000172119	génochondromatose type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3421071001000116	Genochondromatose Typ 2	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module