716338001: Muscular pseudohypertrophy and hypothyroidism syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of neck region\Finding of thyroid gland\Disorder of thyroid gland\Hypothyroidism\Hoffman syndrome
• \Finding of neck region\Disease of neck\Disorder of thyroid gland\Hypothyroidism\Hoffman syndrome
• \General finding of soft tissue\Pseudohypertrophy of muscle\Hoffman syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Hoffman syndrome
• \Muscle finding (finding)\Pseudohypertrophy of muscle\Hoffman syndrome
• \Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Hoffman syndrome
• \Musculoskeletal finding (finding)\Pseudohypertrophy of muscle\Hoffman syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Hoffman syndrome
• \Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of thyroid gland\Hypothyroidism\Hoffman syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Hoffman syndrome
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Hoffman syndrome
• \Disease\Disease of neck\Disorder of thyroid gland\Hypothyroidism\Hoffman syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Hoffman syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3305556019	Muscular pseudohypertrophy and hypothyroidism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305557011	Muscular pseudohypertrophy and hypothyroidism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305558018	Hoffman syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3305559014	Kocher Debre Semelaigne syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401309013	Muscular pseudohypertrophy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401310015	Muscular pseudohypertrophy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterised by pseudohypertrophy of muscles due to longstanding hypothyroidism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3305556019	Muscular pseudohypertrophy and hypothyroidism syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3305556019	Muscular pseudohypertrophy and hypothyroidism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305557011	Muscular pseudohypertrophy and hypothyroidism syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3305557011	Muscular pseudohypertrophy and hypothyroidism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305558018	Hoffman syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3305559014	Kocher Debre Semelaigne syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3305568011	A rare disorder with characteristics of pseudohypertrophy of muscles due to longstanding hypothyroidism. Prevalence is unknown. The syndrome usually presents between 18 months and 10 years but has been reported at earlier ages including during the neonatal period. Patients present with clinical features of hypothyroidism, including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice. Pseudohypertrophy involves the muscles of the extremities, limb girdle, trunk, hands and feet but is more prominent in the limbs, resulting in an athletic appearance. Hypothyroidism, or thyroid hormone deficiency, may be congenital and may be permanent or transient.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401309013	Muscular pseudohypertrophy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401310015	Muscular pseudohypertrophy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterised by pseudohypertrophy of muscles due to longstanding hypothyroidism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3393621001000111	Muskelpseudohypertrophie - Hypothyreose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5477181000241112	syndrome de pseudohypertrophie musculaire avec hypothyroïdisme	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5477181000241112	syndrome de pseudohypertrophie musculaire avec hypothyroïdisme	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3393621001000111	Muskelpseudohypertrophie - Hypothyreose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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