724146008: Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Disorder of the central nervous system\Functional disease of the central nervous system with neuroendocrine disturbance\Disorder of neurometabolic regulation\2-hydroxyglutaric aciduria\D-2(OH) glutaric aciduria\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria

\Musculoskeletal finding\Cartilage finding\Cartilage disorder\Osteochondropathy\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Musculoskeletal finding\Cartilage finding\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Musculoskeletal finding\Bone finding\Disorder of bone\Osteochondropathy\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Cartilage disorder\Osteochondropathy\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\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\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Osteochondropathy\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Cartilage disorder\Osteochondropathy\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\2-hydroxyglutaric aciduria\D-2(OH) glutaric aciduria\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\2-hydroxyglutaric aciduria\D-2(OH) glutaric aciduria\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\2-hydroxyglutaric aciduria\D-2(OH) glutaric aciduria\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\2-hydroxyglutaric aciduria\D-2(OH) glutaric aciduria\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\2-hydroxyglutaric aciduria\D-2(OH) glutaric aciduria\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\2-hydroxyglutaric aciduria\D-2(OH) glutaric aciduria\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Disorder of body system\Disorder of endocrine system\Functional disease of the central nervous system with neuroendocrine disturbance\Disorder of neurometabolic regulation\2-hydroxyglutaric aciduria\D-2(OH) glutaric aciduria\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\2-hydroxyglutaric aciduria\D-2(OH) glutaric aciduria\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Functional disease of the central nervous system with neuroendocrine disturbance\Disorder of neurometabolic regulation\2-hydroxyglutaric aciduria\D-2(OH) glutaric aciduria\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal and connective tissue disorder\Cartilage disorder\Osteochondropathy\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\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\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Osteochondropathy\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Cartilage disorder\Osteochondropathy\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\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\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\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\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\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\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Disorder of connective tissue\Congenital connective tissue disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Disorder of connective tissue\Musculoskeletal and connective tissue disorder\Cartilage disorder\Osteochondropathy\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\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\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Metabolic disease\Metabolic bone disease\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Metabolic disease\Disorder of neurometabolic regulation\2-hydroxyglutaric aciduria\D-2(OH) glutaric aciduria\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Congenital disease\2-hydroxyglutaric aciduria\D-2(OH) glutaric aciduria\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Congenital disease\Congenital connective tissue disorder\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Developmental disorder\Developmental hereditary disorder\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\Disorganised development of cartilaginous and fibrous components of the skeleton\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Enchondromatosis\Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3438261019 Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3438262014 Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria en Synonym Active Initial character case insensitive SNOMED CT core

3438263016 An extremely rare genetic disorder with characteristics of the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria	Occurrence	Congenital	true	Inferred relationship	Some	1
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria	Finding site	Bone structure	true	Inferred relationship	Some	1
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria	Finding site	Cartilage structure	true	Inferred relationship	Some	3
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria	Occurrence	Congenital	true	Inferred relationship	Some	3
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria	Is a	Metabolic bone disease	true	Inferred relationship	Some
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria	Is a	D-2(OH) glutaric aciduria	true	Inferred relationship	Some
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria	Is a	Enchondromatosis	true	Inferred relationship	Some
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria	Is a	Inherited disorder of connective tissue	true	Inferred relationship	Some
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria	Occurrence	Congenital	true	Inferred relationship	Some	4
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria	Occurrence	Congenital	true	Inferred relationship	Some	5
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria	Occurrence	Congenital	false	Inferred relationship	Some	6
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria	Finding site	Structure of endocrine system	true	Inferred relationship	Some	4
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria	Finding site	Structure of central nervous system	true	Inferred relationship	Some	5
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	6
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria	Finding site	Bone structure	false	Inferred relationship	Some	6

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
3438261019	Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3438262014	Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3438263016	An extremely rare genetic disorder with characteristics of the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.	en	Definition	Active	Case sensitive	SNOMED CT core