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

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
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
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
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
3385831001000111 Primäre Mikrozephalie-Epilepsie-permanentes neonatales Diabetes-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6426121000241113 syndrome de microcéphalie primaire, épilepsie et diabète néonatal permanent fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6426121000241113 syndrome de microcéphalie primaire, épilepsie et diabète néonatal permanent fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3385831001000111 Primäre Mikrozephalie-Epilepsie-permanentes neonatales Diabetes-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

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 (core metadata concept)
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Occurrence Infancy true Inferred relationship Existential restriction modifier (core metadata concept) 2
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Occurrence Infancy true Inferred relationship Existential restriction modifier (core metadata concept) 3
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a A type of epilepsy characterized by frequent epileptiform activity associated with developmental slowing and often regression on the background of previously normal development. In this type of epilepsy the frequent seizures and/or epileptiform discharges, rather than underlying etiology is thought to be the only cause of developmental impairment. false Inferred relationship Existential restriction modifier (core metadata concept)
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a microcéphalie false Inferred relationship Existential restriction modifier (core metadata concept)
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a Global developmental delay true Inferred relationship Existential restriction modifier (core metadata concept)
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a Permanent neonatal diabetes mellitus (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a Congenital anomaly of brain false Inferred relationship Existential restriction modifier (core metadata concept)
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Finding site The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. false Inferred relationship Existential restriction modifier (core metadata concept) 3
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Finding site Structure of endocrine system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 4
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Finding site Head structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Interprets Birth head circumference true Inferred relationship Existential restriction modifier (core metadata concept) 4
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a Congenital microcephaly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a Developmental and epileptic encephalopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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