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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 Reference Sets
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 GB English: Preferred (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)

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 Some 2
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Is a Delayed bone age true Inferred relationship Some
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Is a Congenital hypothyroidism true Inferred relationship Some
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Is a Global developmental delay true Inferred relationship Some
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
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 Some
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Occurrence Congenital true Inferred relationship Some 1
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Finding site Thyroid structure true Inferred relationship Some 1
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Interprets Height / growth measure true Inferred relationship Some 4
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Is a Disorder of bone (disorder) true Inferred relationship Some
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Finding site Bone structure true Inferred relationship Some 5
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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