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736652002: Neonatal metabolic disorder (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
3521329011 Neonatal metabolic disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3521330018 Neonatal metabolic disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3521329011 Neonatal metabolic disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3521330018 Neonatal metabolic disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

80 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Neonatal metabolic disorder (disorder) Is a Neonatal disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal metabolic disorder (disorder) Is a Metabolic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal metabolic disorder (disorder) Occurrence Neonatal true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Neonatal hemochromatosis (disorder) Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Transitory neonatal electrolyte disturbance Is a False Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal iminoglycinuria Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal cystine-lysinuria Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal hypermethioninemia Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal hypoglycemia Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Benign neonatal hyperaminoaciduria Is a False Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal dehydration Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal hyperhistidinaemia Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal hypomagnesaemia Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal respiratory alkalosis Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Disturbances of sodium balance of newborn Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Disturbances of potassium balance of newborn Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal pseudo-hydrocephalic progeroid syndrome Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal hypocalcaemia Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal hyperglycemia Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Idiopathic transient neonatal hyperinsulinemia (disorder) Is a False Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal nephrocalcinosis Is a False Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital uraemia Is a False Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal overhydration Is a False Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal rickets Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal hyperbilirubinemia Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypoxemia in newborn (disorder) Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Folinic acid responsive seizure syndrome (disorder) Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
TMEM70 related mitochondrial encephalo-cardio-myopathy Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Metabolic bone disease of prematurity (disorder) Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother. Is a False Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Transient bullous dermolysis of newborn (disorder) Is a False Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal acidosis Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal metabolic acidemia Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Syndrome of infant of mother with gestational diabetes Is a False Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal thyrotoxicosis Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal iron overload Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Progressive familial intrahepatic cholestasis type 2 Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Transitory metabolic disturbance in infant of pre-diabetic mother (disorder) Is a False Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal jaundice with porphyria Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic neurometabolic disease characterised by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic oedema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth. Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
3-methylglutaconic aciduria type 8 Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neonatal transient metabolic disturbance (disorder) Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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 metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Developmental delay, epilepsy, neonatal diabetes syndrome (disorder) Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Glucose-galactose malabsorption (disorder) Is a True Neonatal metabolic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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