1003427004: Genochondromatosis type 1 (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Cartilage finding\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis\Genochondromatosis type 1
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Genochondromatosis type 1
\Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis\Genochondromatosis type 1
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis\Genochondromatosis type 1
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis\Genochondromatosis type 1
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis\Genochondromatosis type 1
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis\Genochondromatosis type 1

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Genochondromatosis type 1
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Genochondromatosis type 1
\Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Genochondromatosis type 1
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Genochondromatosis type 1
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Genochondromatosis type 1
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Genochondromatosis type 1
\Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis\Genochondromatosis type 1
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis\Genochondromatosis type 1
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis\Genochondromatosis type 1
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis\Genochondromatosis type 1
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis\Genochondromatosis type 1
\Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Genochondromatosis type 1
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis\Genochondromatosis type 1
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis\Genochondromatosis type 1
\Disease\Congenital disease\Congenital connective tissue disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis\Genochondromatosis type 1
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis\Genochondromatosis type 1
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis\Genochondromatosis type 1
\Disease\Developmental disorder\Developmental hereditary disorder\Genochondromatosis type 1
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis\Genochondromatosis type 1
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Genochondromatosis\Genochondromatosis type 1

Status: current, Primitive. Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4168221015 Genochondromatosis type 1 (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4168222010 Genochondromatosis type 1 en Synonym Active Case insensitive SNOMED CT core

4164902013 A rare genetic bone development disorder characterized by involvement of the 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 Case sensitive SNOMED CT core

4164903015 A rare genetic bone development disorder characterised by involvement of the 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Genochondromatosis type 1	Is a	Genochondromatosis	true	Inferred relationship	Some
Genochondromatosis type 1	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Genochondromatosis type 1	Occurrence	Congenital	true	Inferred relationship	Some	1
Genochondromatosis type 1	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Genochondromatosis type 1	Finding site	Cartilage structure	true	Inferred relationship	Some	1
Genochondromatosis type 1	Is a	Inherited disorder of connective tissue	true	Inferred relationship	Some
Genochondromatosis type 1	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Genochondromatosis type 1	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Genochondromatosis type 1	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Unit of use size reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4168221015	Genochondromatosis type 1 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4168222010	Genochondromatosis type 1	en	Synonym	Active	Case insensitive	SNOMED CT core
4164902013	A rare genetic bone development disorder characterized by involvement of the 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	Case sensitive	SNOMED CT core
4164903015	A rare genetic bone development disorder characterised by involvement of the 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	Case sensitive	SNOMED CT core