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724385009: Growth delay due to insulin-like growth factor type 1 deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3481746014 Growth delay due to insulin-like growth factor type 1 deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3481747017 Growth delay due to insulin-like growth factor type 1 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3481748010 Growth delay, deafness, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3481749019 IGF-1 (insulin-like growth factor 1) deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3481750019 Primary insulin-like growth factor deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403325014 Growth delay due to insulin-like growth factor I deficiency is characterized by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403326010 Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3481746014 Growth delay due to insulin-like growth factor type 1 deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3481747017 Growth delay due to insulin-like growth factor type 1 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3481748010 Growth delay, deafness, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3481749019 IGF-1 (insulin-like growth factor 1) deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3481750019 Primary insulin-like growth factor deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3481751015 Syndrome with the association of intrauterine and postnatal growth retardation, sensorineural deafness and intellectual deficit. The syndrome is extremely rare and only four cases have been reported in the literature so far. Additional clinical features include microcephaly, adiposity, and insulin resistance. Partial gonadal dysfunction and osteoporosis may also be present. Caused by homozygous mutations in the insulin-like growth factor 1 gene (12q22-q24.1). Transmitted as an autosomal recessive trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403325014 Growth delay due to insulin-like growth factor I deficiency is characterized by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403326010 Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3454401001000116 Wachstumsverzögerung durch IGF-1 (insulin-like growth factor I)-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
968911000172115 déficit en IGF-1 (insulin-like growth factor type 1) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
984731000172118 retard de croissance par déficit du facteur de croissance analogue à l'insuline type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
968911000172115 déficit en IGF-1 (insulin-like growth factor type 1) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
984731000172118 retard de croissance par déficit du facteur de croissance analogue à l'insuline type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3454401001000116 Wachstumsverzögerung durch IGF-1 (insulin-like growth factor I)-Mangel 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
Growth delay due to insulin-like growth factor type 1 deficiency (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Growth delay due to insulin-like growth factor type 1 deficiency (disorder) Is a Hereditary disorder of endocrine system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Growth delay due to insulin-like growth factor type 1 deficiency (disorder) Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Growth delay due to insulin-like growth factor type 1 deficiency (disorder) Is a Growth hormone deficiency (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Growth delay due to insulin-like growth factor type 1 deficiency (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Growth delay due to insulin-like growth factor type 1 deficiency (disorder) Finding site Structure of distal part of pituitary true Inferred relationship Existential restriction modifier (core metadata concept) 1
Growth delay due to insulin-like growth factor type 1 deficiency (disorder) Is a Congenital disease true Inferred relationship Existential restriction modifier (core metadata concept)
Growth delay due to insulin-like growth factor type 1 deficiency (disorder) Is a Hereditary growth hormone deficiency (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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