782825008: Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome

\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Diabetes mellitus\Diabetes mellitus due to genetic defect in beta cell function\Neonatal diabetes mellitus\Permanent neonatal diabetes mellitus\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Generalized epilepsy\Epileptic encephalopathy\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose metabolism\Diabetes mellitus\Diabetes mellitus due to genetic defect in beta cell function\Neonatal diabetes mellitus\Permanent neonatal diabetes mellitus\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3756085012 Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3756086013 Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Existential restriction modifier	1
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Occurrence	Infancy	true	Inferred relationship	Existential restriction modifier	2
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	1
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Occurrence	Infancy	true	Inferred relationship	Existential restriction modifier	3
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	Epileptic encephalopathy	true	Inferred relationship	Existential restriction modifier
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	Microcephalus	false	Inferred relationship	Existential restriction modifier
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	Global developmental delay	true	Inferred relationship	Existential restriction modifier
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	Permanent neonatal diabetes mellitus	true	Inferred relationship	Existential restriction modifier
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Existential restriction modifier
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Finding site	Structure of cerebrum	true	Inferred relationship	Existential restriction modifier	3
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Finding site	Structure of endocrine system	true	Inferred relationship	Existential restriction modifier	2
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Existential restriction modifier
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	4
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	1
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Interprets	Birth head circumference	true	Inferred relationship	Existential restriction modifier	4
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Existential restriction modifier

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
3756085012	Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3756086013	Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module