736653007: Neonatal disorder of endocrine system (disorder)

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

\Finding of neonate\Neonatal disorder\Neonatal disorder of endocrine system (disorder)

\Disease\Disorder of foetus and/or newborn\Neonatal disorder\Neonatal disorder of endocrine system (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Neonatal disorder of endocrine system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3521338013 Neonatal disorder of endocrine system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3521339017 Neonatal disorder of endocrine system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3521340015 Neonatal endocrine disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Transient neonatal hypoglycemia due to hyperinsulinemia (disorder)	Is a	True	Neonatal disorder of endocrine system (disorder)	Inferred relationship	Some
A rare genetic endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypo ketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures. There is evidence the disease can be caused by heterozygous mutation in the AKT2 gene on chromosome 19q13.	Is a	True	Neonatal disorder of endocrine system (disorder)	Inferred relationship	Some
A rare endocrine disease with characteristics of the appearance of transient hypothyroidism usually in preterm newborns following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid function in term neonates.	Is a	False	Neonatal disorder of endocrine system (disorder)	Inferred relationship	Some
Neonatal Graves' disease	Is a	False	Neonatal disorder of endocrine system (disorder)	Inferred relationship	Some
Neonatal goiter	Is a	True	Neonatal disorder of endocrine system (disorder)	Inferred relationship	Some
Idiopathic transient neonatal hyperinsulinaemia	Is a	True	Neonatal disorder of endocrine system (disorder)	Inferred relationship	Some
Transient neonatal hypothyroidism	Is a	True	Neonatal disorder of endocrine system (disorder)	Inferred relationship	Some
Transitory metabolic disturbance in infant of pre-diabetic mother	Is a	True	Neonatal disorder of endocrine system (disorder)	Inferred relationship	Some
Transient hypothyroxinemia	Is a	True	Neonatal disorder of endocrine system (disorder)	Inferred relationship	Some
A rare genetic disease characterized by the association of Fanconi syndrome and nephrocalcinosis in addition to neonatal hyperinsulinism and macrosomia. Patients display a phenotype of proximal tubulopathy characterized by generalized aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia, and additional features not normally seen in Fanconi syndrome (apart from nephrocalcinosis), namely renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia.	Is a	True	Neonatal disorder of endocrine system (disorder)	Inferred relationship	Some
A rare, genetic, neonatal diabetes mellitus syndrome, that is a variant of DEND syndrome and has clinical characteristics of neonatal insulin-dependent diabetes mellitus, mild motor, speech or cognitive delay, and the absence of epilepsy.	Is a	True	Neonatal disorder of endocrine system (disorder)	Inferred relationship	Some
DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.	Is a	True	Neonatal disorder of endocrine system (disorder)	Inferred relationship	Some

This concept is not in any reference sets