719405005: Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome

\Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Leukoencephalopathy\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Leukoencephalopathy\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Disorder of brain\...

\Degenerative brain disorder\Cerebral degeneration\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome

\Leukoencephalopathy\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome

\Finding of head region\Leukoencephalopathy\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome

\Disorder of head\Disorder of brain\...

\Degenerative brain disorder\Cerebral degeneration\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome

\Leukoencephalopathy\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Leukoencephalopathy\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Disorder of head\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Disorder of head\Disorder of brain\Leukoencephalopathy\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3316235018 Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3316236017 Leukoencephalopathy with metaphyseal chondrodysplasia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3789576010 Leucoencephalopathy with metaphyseal chondrodysplasia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	Is a	Leukoencephalopathy	true	Inferred relationship	Existential restriction modifier
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	Is a	Metaphyseal chondrodysplasia	true	Inferred relationship	Existential restriction modifier
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	Finding site	Cerebral white matter structure	true	Inferred relationship	Existential restriction modifier	2
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	3
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	3
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Existential restriction modifier
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	Is a	Cerebral degeneration	true	Inferred relationship	Existential restriction modifier
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	Associated morphology	Degenerative abnormality	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3316235018	Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3316236017	Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3789576010	Leucoencephalopathy with metaphyseal chondrodysplasia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module