782825008: syndroom van primaire microcefalie, epilepsie en permanente neonatale diabetes (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome

\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Developmental and 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 (disorder)\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 foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (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 (disorder)\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\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 (disorder)\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Primary microcephaly, epilepsy, permanent neonatal diabetes 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\Developmental and epileptic encephalopathy\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose metabolism (disorder)\Diabetes mellitus\Diabetes mellitus due to genetic defect in beta cell function\Neonatal diabetes mellitus\Permanent neonatal diabetes mellitus (disorder)\Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental and epileptic encephalopathy\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 (disorder)\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 (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3756085012 Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

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

7882921000146113 syndroom van primaire microcefalie, epilepsie en permanente neonatale diabetes nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7882931000146110 syndroom van primaire microcefalie, epilepsie en permanente neonatale diabetes (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3756087016 A rare genetic neurologic disease with characteristics of congenital microcephaly, severe early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent neonatal, insulin-dependent diabetes mellitus and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the IER3IP1 gene on chromosome 18q21. 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
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	1
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Occurrence	Infancy	true	Inferred relationship	Some	2
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Finding site	Brain structure	false	Inferred relationship	Some	1
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Occurrence	Infancy	true	Inferred relationship	Some	3
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	Epileptic encephalopathy (disorder)	false	Inferred relationship	Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	microcefalie	false	Inferred relationship	Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	Global developmental delay	true	Inferred relationship	Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	Permanent neonatal diabetes mellitus (disorder)	true	Inferred relationship	Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Finding site	Cerebrum	false	Inferred relationship	Some	3
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Finding site	Structure of endocrine system (body structure)	true	Inferred relationship	Some	2
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Finding site	Head structure	true	Inferred relationship	Some	1
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Interprets	Birth head circumference	true	Inferred relationship	Some	4
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Finding site	Brain structure	true	Inferred relationship	Some	3
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	Developmental and epileptic encephalopathy	true	Inferred relationship	Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	1
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	Hereditary metabolic disease	false	Inferred relationship	Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	Congenital neurological disorder (disorder)	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3756085012	Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756086013	Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7882921000146113	syndroom van primaire microcefalie, epilepsie en permanente neonatale diabetes	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7882931000146110	syndroom van primaire microcefalie, epilepsie en permanente neonatale diabetes (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3756087016	A rare genetic neurologic disease with characteristics of congenital microcephaly, severe early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent neonatal, insulin-dependent diabetes mellitus and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the IER3IP1 gene on chromosome 18q21.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core