716338001: Muscular pseudohypertrophy and hypothyroidism syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Finding of appearance of skeletal muscle\Finding of size of skeletal muscle\Enlargement of skeletal muscle\Pseudohypertrophy of muscle\Hoffman syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Hoffman syndrome
• \Finding of head and neck region\Finding of neck region\...
• \Finding of thyroid gland\Thyroid disease\Hypothyroidism\Hoffman syndrome
• \Disorder of neck\Thyroid disease\Hypothyroidism\Hoffman syndrome
• \Muscle finding\Finding of appearance of skeletal muscle\Finding of size of skeletal muscle\Enlargement of skeletal muscle\Pseudohypertrophy of muscle\Hoffman syndrome
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Hoffman syndrome
• \Musculoskeletal finding\Finding of appearance of skeletal muscle\Finding of size of skeletal muscle\Enlargement of skeletal muscle\Pseudohypertrophy of muscle\Hoffman syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\Hoffman syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Thyroid disease\Hypothyroidism\Hoffman syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Hoffman syndrome
• \Disease\Myopathy\Disorder of skeletal muscle\Hoffman syndrome
• \Disease\Disorder of neck\Thyroid disease\Hypothyroidism\Hoffman syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Hoffman syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3305557011	Muscular pseudohypertrophy and hypothyroidism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3305558018	Hoffman syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3305559014	Kocher Debre Semelaigne syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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