OMOP Concept 1245354
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
StandardConditionSNOMED1300128003Disorder
Maps from
0
Descendants
0
Valid from
1 Feb 2024
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome across source vocabularies.
- Methenyltetrahydrofolate synthetase-related developmental delay, microcephaly, short stature, epilepsy syndrome
- Methenyltetrahydrofolate synthetase-related developmental delay, microcephaly, short stature, epilepsy syndrome (disorder)
- MTHFS (methenyltetrahydrofolate synthetase) related developmental delay, microcephaly, short stature, epilepsy syndrome
- síndrome de retraso del desarrollo, microcefalia, talla baja, epilepsia asociado a meteniltetrahidrofolato sintetasa
- síndrome de retraso del desarrollo, microcefalia, talla baja, epilepsia asociado a meteniltetrahidrofolato sintetasa (trastorno)
- síndrome de retraso del desarrollo, microcefalia, talla baja, epilepsia asociado a MTHFS (meteniltetrahidrofolato sintetasa)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(55)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Developmental hereditary disorder
- 1Epilepsy
- 1Global developmental delay
- 1Hereditary degenerative disease of central nervous system
- 1Hypomyelination of central nervous system structure
- 1Inherited disorder of folate metabolism
- 1Inherited metabolic disorder of nervous system
- 1Lesion of brain
- 1Leukodystrophy
- 1Microcephaly
- 1Multiple system malformation syndrome
- 1Short stature disorder
- 2Autosomal hereditary disorder
- 2Congenital malformation syndrome
- 2Degenerative disease of the central nervous system
- 2Developmental delay
- 2Developmental disorder
- 2Disorder of brain
- 2Disorder of organic acid metabolism
- 2Disorder of stature
- 2Disorder of the central nervous system
- 2Finding of head circumference
- 2Hereditary disease
- 2Hereditary disorder of nervous system
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