609565001: Permanent neonatal diabetes mellitus (disorder)

SNOMED CT Concept\Clinical finding (finding)\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)

\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 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2013. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2967851018 Permanent neonatal diabetes mellitus (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2967864017 Permanent diabetes mellitus of infancy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2967869010 Permanent neonatal diabetes mellitus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

931401000172110 DNP - diabète néonatal permanent fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

959631000172117 diabète néonatal permanent fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3381041001000112 Diabetes mellitus, isolierter neonataler permanenter de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Permanent neonatal diabetes mellitus (disorder)	Is a	Neonatal diabetes mellitus	true	Inferred relationship	Some
Permanent neonatal diabetes mellitus (disorder)	Occurrence	Infancy	true	Inferred relationship	Some	1
Permanent neonatal diabetes mellitus (disorder)	Finding site	Structure of endocrine system (body structure)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare neurologic disease characterised by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. Absence or hypoplasia of the cerebellum and severe intra-uterine growth retardation can be detected prenatally. Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. The disease is lethal in the neonatal period.	Is a	True	Permanent neonatal diabetes mellitus (disorder)	Inferred relationship	Some
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by 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.	Is a	True	Permanent neonatal diabetes mellitus (disorder)	Inferred relationship	Some

This concept is not in any reference sets