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

SNOMED CT Concept\Clinical finding (finding)\...

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Short stature co-occurrent and due to endocrine disorder (disorder)\Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)

\Finding of neck region\Finding of thyroid gland\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)
\Finding of neck region\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Short stature co-occurrent and due to endocrine disorder (disorder)\Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)

\Musculoskeletal finding\Bone finding\Bone age finding (finding)\Delayed bone age\Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)

\Age AND/OR growth finding\Bone age finding (finding)\Delayed bone age\Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hypothyroidism\Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Short stature co-occurrent and due to endocrine disorder (disorder)\Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)
\Disease\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Short stature co-occurrent and due to endocrine disorder (disorder)\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

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

Reference Sets

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

Back to Start

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