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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3481747017 Growth delay due to insulin-like growth factor type 1 deficiency en Synonym Active Case insensitive SNOMED CT core
3481748010 Growth delay, deafness, intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core
3481749019 IGF-1 (insulin-like growth factor 1) deficiency en Synonym Active Case sensitive SNOMED CT core
3481750019 Primary insulin-like growth factor deficiency en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core


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 Is a Congenital disease true Inferred relationship Some
Growth delay due to insulin-like growth factor type 1 deficiency Is a Hereditary growth hormone deficiency true Inferred relationship Some
Growth delay due to insulin-like growth factor type 1 deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Growth delay due to insulin-like growth factor type 1 deficiency Is a Hereditary disorder of endocrine system false Inferred relationship Some
Growth delay due to insulin-like growth factor type 1 deficiency Is a Hereditary disorder of nervous system false Inferred relationship Some
Growth delay due to insulin-like growth factor type 1 deficiency Is a Growth hormone deficiency false Inferred relationship Some
Growth delay due to insulin-like growth factor type 1 deficiency Occurrence Congenital true Inferred relationship Some 1
Growth delay due to insulin-like growth factor type 1 deficiency Finding site Structure of distal part of pituitary true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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