1300128003: Methenyltetrahydrofolate synthetase-related developmental delay, microcephaly, short stature, epilepsy syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference (finding)\Microcephaly (finding)\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (disorder)\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Body measurement finding\Finding of head circumference (finding)\Microcephaly (finding)\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Neurological lesion\Leucodystrophy\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder (disorder)\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\MTHFS-related developmental delay, microcephaly, short stature, epilepsy 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\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of folate metabolism\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited disorder of folate metabolism\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Leucodystrophy\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\MTHFS-related developmental delay, microcephaly, short stature, epilepsy 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\Leucodystrophy\MTHFS-related developmental delay, microcephaly, short stature, epilepsy 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\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited disorder of folate metabolism\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Inherited disorder of folate metabolism\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Disease\Developmental disorder (disorder)\Developmental delay\Global developmental delay\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
• \Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5298221018	MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5298222013	MTHFS (methenyltetrahydrofolate synthetase) related developmental delay, microcephaly, short stature, epilepsy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5298223015	Methenyltetrahydrofolate synthetase-related developmental delay, microcephaly, short stature, epilepsy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5298224014	Methenyltetrahydrofolate synthetase-related developmental delay, microcephaly, short stature, epilepsy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5298228012	A rare genetic neurometabolic disease characterised by microcephaly, short stature, epilepsy, cerebral hypomyelination, severe global developmental delay, and progressive spasticity. Macrocytic anaemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time, mild cerebellar atrophy and/or thin corpus callosum.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5298229016	A rare genetic neurometabolic disease characterized by microcephaly, short stature, epilepsy, cerebral hypomyelination, severe global developmental delay, and progressive spasticity. Macrocytic anemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time, mild cerebellar atrophy and/or thin corpus callosum.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5298221018	MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5298222013	MTHFS (methenyltetrahydrofolate synthetase) related developmental delay, microcephaly, short stature, epilepsy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5298223015	Methenyltetrahydrofolate synthetase-related developmental delay, microcephaly, short stature, epilepsy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5298224014	Methenyltetrahydrofolate synthetase-related developmental delay, microcephaly, short stature, epilepsy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5298228012	A rare genetic neurometabolic disease characterised by microcephaly, short stature, epilepsy, cerebral hypomyelination, severe global developmental delay, and progressive spasticity. Macrocytic anaemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time, mild cerebellar atrophy and/or thin corpus callosum.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5298229016	A rare genetic neurometabolic disease characterized by microcephaly, short stature, epilepsy, cerebral hypomyelination, severe global developmental delay, and progressive spasticity. Macrocytic anemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time, mild cerebellar atrophy and/or thin corpus callosum.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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