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763890006: Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3645155017 Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3645156016 Short stature with delayed bone age due to thyroid hormone metabolism deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404266019 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404267011 Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3645155017 Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3645156016 Short stature with delayed bone age due to thyroid hormone metabolism deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3645158015 A rare genetic congenital hypothyroidism disorder with characteristics of 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. The disease can be caused by homozygous or compound heterozygous mutation in the SECISBP2 gene on chromosome 9q22. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404266019 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404267011 Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447331001000114 Kleinwuchs - retardiertes Knochenalter, durch stoffwechselbedingten Schilddrüsenhormonmangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1020711000172119 petite taille-retard d'âge osseux par déficit du métabolisme de l'hormone thyroïdienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1020711000172119 petite taille-retard d'âge osseux par déficit du métabolisme de l'hormone thyroïdienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3447331001000114 Kleinwuchs - retardiertes Knochenalter, durch stoffwechselbedingten Schilddrüsenhormonmangel 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
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Due to Inherited disorder of thyroid metabolism true Inferred relationship Existential restriction modifier (core metadata concept) 2
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Is a Delayed bone age true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Is a Congenital hypothyroidism (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Is a Global developmental delay true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Is a Short stature co-occurrent and due to endocrine disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Finding site Thyroid structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Is a Disorder of bone (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Is a Hereditary disorder of musculoskeletal system 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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