719405005: Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain\Leukoencephalopathy\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Head finding (finding)\Finding of head region\Leukoencephalopathy\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Leukoencephalopathy\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder (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 (disorder)\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)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Leukoencephalopathy\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\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 (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \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\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\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 (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\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 (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\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 (disorder)\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Leukoencephalopathy\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \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\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Leukoencephalopathy\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Leukoencephalopathy with metaphyseal chondrodysplasia syndrome
• \Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (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 (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3316235018	Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316236017	Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3789576010	Leucoencephalopathy with metaphyseal chondrodysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402096016	A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402097013	A rare genetic neurological disorder characterised by the association of hypomyelinating leucodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3316235018	Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3316235018	Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316236017	Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3316236017	Leukoencephalopathy with metaphyseal chondrodysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3789576010	Leucoencephalopathy with metaphyseal chondrodysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316237014	The association of leukoencephalopathy and metaphyseal chondrodysplasia has been reported in four men from a three-generation family. Onset manifests by spastic paraplegia at the age of 2, followed by tremor, ataxia, optic atrophy, and spastic tetraparesis. Transmission is X-linked and the gene responsible of the disease may be located at Xq25-q27.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3789575014	The association of leucoencephalopathy and metaphyseal chondrodysplasia has been reported in four men from a three-generation family. Onset manifests by spastic paraplegia at the age of 2, followed by tremor, ataxia, optic atrophy, and spastic tetraparesis. Transmission is X-linked and the gene responsible of the disease may be located at Xq25-q27.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402096016	A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402097013	A rare genetic neurological disorder characterised by the association of hypomyelinating leucodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3385231001000110	Leukoenzephalopathie-spondylometaphysäre Dysplasie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
971741000172115	syndrome de leucoencéphalopathie-chondrodysplasie métaphysaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
971741000172115	syndrome de leucoencéphalopathie-chondrodysplasie métaphysaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3385231001000110	Leukoenzephalopathie-spondylometaphysäre Dysplasie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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

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