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3658006: Infancy (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
7176015 Infancy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1195234019 Infancy (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1228668012 Infancy - period en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
355551000195114 prima infanzia it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
276611000077114 petite enfance fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
2411001000117 Säuglingsalter de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Infancy Is a Periods of life false Inferred relationship Some
Infancy Is a Age AND/OR growth period false Inferred relationship Some
Infancy Is a Any period of life commencing after birth, but before death. true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Victim of infant neglect (finding) Occurrence True Infancy Inferred relationship Some 3
Abandonment of infant Occurrence True Infancy Inferred relationship Some 1
Abandonment of infant with intent to injure or kill Occurrence True Infancy Inferred relationship Some 1
Progressive microcephaly, seizures, cortical blindness, developmental delay with combined immunodeficiency due to DIAPH1 mutation Occurrence True Infancy Inferred relationship Some 1
Rumination disorder of infancy Occurrence True Infancy Inferred relationship Some 1
Hypotonia of axial muscles occurring in infancy Occurrence True Infancy Inferred relationship Some 1
2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria. Occurrence True Infancy Inferred relationship Some 7
Punctate calcification of cartilaginous skeleton in infancy (finding) Occurrence True Infancy Inferred relationship Some 1
A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to Kir6.2 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated. Occurrence True Infancy Inferred relationship Some 1
A rare, congenital, isolated hyperinsulinism disorder characterized by neonatal presentation of severe refractory hypoglycemia in the first two days of life, with limited response to medical management, sometimes requiring pancreatic resection. Newborns are often large for gestational age with mild to moderate hepatomegaly and diffuse form of hyperinsulinism due to SUR1 deficiency. Persistent hypoglycemia, hyperglycemia and type1 diabetes mellitus may develop later in life. Life-threatening hypoglycemic coma or status epilepticus have also been associated. Occurrence True Infancy Inferred relationship Some 1
A form of diazoxide-sensitive diffuse congenital hyperinsulinism due to HNF4A deficiency and, characterised by macrosomia, transient or persistent hyperinsulinaemic hypoglycaemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY). Occurrence True Infancy Inferred relationship Some 1
Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving into maturity-onset diabetes of the young subtype 1 later in life. Occurrence True Infancy Inferred relationship Some 1
Diencephalic syndrome of infancy Occurrence True Infancy Inferred relationship Some 3

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