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\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 (disorder)\Seizure disorder\Epilepsy\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
\Body measurement finding\Finding of head circumference\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\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 (disorder)\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 (disorder)\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\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\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 (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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 (disorder)\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\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
\Disease\Disorder of body system\Disorder 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\Disorder 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 (disorder)\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\Inherited disorder of folate metabolism\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
\Disease\Developmental disorder\Developmental delay\Global developmental delay\MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature 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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Is a	Microcephaly (finding)	true	Inferred relationship	Some
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Is a	Leucodystrophy	true	Inferred relationship	Some
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Is a	Global developmental delay	true	Inferred relationship	Some
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Is a	Inherited disorder of folate metabolism	true	Inferred relationship	Some
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Is a	Epilepsy	true	Inferred relationship	Some
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Finding site	Brain structure	true	Inferred relationship	Some	5
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	4
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Some	1
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	1
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	2
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Some	2
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Interprets	Body height measure (observable entity)	true	Inferred relationship	Some	6
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	6
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Associated morphology	Hypomyelination	true	Inferred relationship	Some	5
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Interprets	Head circumference	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

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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