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368331000119100: Short stature co-occurrent and due to endocrine disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3289708015 Short stature co-occurrent and due to endocrine disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3289774017 Short stature co-occurrent and due to endocrine disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
7796001000241117 petite taille concomitante de et due à une affection endocrinienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7796011000241115 petite taille concomitante de et due à une maladie endocrinienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

10 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Short stature co-occurrent and due to endocrine disorder (disorder) Is a Short stature disorder true Inferred relationship Some
Short stature co-occurrent and due to endocrine disorder (disorder) Due to Disorder of endocrine system true Inferred relationship Some 2
Short stature co-occurrent and due to endocrine disorder (disorder) Is a Disorder of endocrine system true Inferred relationship Some
Short stature co-occurrent and due to endocrine disorder (disorder) Finding site Structure of endocrine system (body structure) true Inferred relationship Some 1
Short stature co-occurrent and due to endocrine disorder (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Short stature co-occurrent and due to endocrine disorder (disorder) Interprets Height / growth measure true Inferred relationship Some 4
Inbound Relationships Type Active Source Characteristic Refinability Group
Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported. Is a True Short stature co-occurrent and due to endocrine disorder (disorder) Inferred relationship Some
Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported. Is a True Short stature co-occurrent and due to endocrine disorder (disorder) Inferred relationship Some
Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone. Is a True Short stature co-occurrent and due to endocrine disorder (disorder) Inferred relationship Some
Pituitary dwarfism Is a True Short stature co-occurrent and due to endocrine disorder (disorder) Inferred relationship Some
A rare genetic disease characterized by pre- and postnatal growth restriction, developmental delay, adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias, or cryptorchidism), thrombocytopenia and/or anemia, recurrent severe invasive infections, and enteropathy with chronic diarrhea. Myelodysplastic syndrome and dysmorphic features (including downslanting palpebral fissures, low-set and posteriorly rotated ears, anteverted nares, camptodactyly, and arachnodactyly, among others) may also be observed. Is a True Short stature co-occurrent and due to endocrine disorder (disorder) Inferred relationship Some

This concept is not in any reference sets

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