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716338001: Muscular pseudohypertrophy and hypothyroidism syndrome (disorder)


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 Reference Sets
3305556019 Muscular pseudohypertrophy and hypothyroidism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3305557011 Muscular pseudohypertrophy and hypothyroidism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3305558018 Hoffman syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3305559014 Kocher Debre Semelaigne syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)
2245781000172112 Hoffmann fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept) Belgian GP French language reference set (foundation metadata concept): Preferred (foundation metadata concept)
2245791000172110 Hoffmann nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept) Belgian GP Dutch language reference set (foundation metadata concept): Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Muscular pseudohypertrophy and hypothyroidism syndrome (disorder) Is a Hypothyroidism true Inferred relationship Some
Muscular pseudohypertrophy and hypothyroidism syndrome (disorder) Is a Disorder of skeletal muscle true Inferred relationship Some
Muscular pseudohypertrophy and hypothyroidism syndrome (disorder) Is a Pseudohypertrophy of muscle true Inferred relationship Some
Muscular pseudohypertrophy and hypothyroidism syndrome (disorder) Finding site Thyroid structure true Inferred relationship Some 1
Muscular pseudohypertrophy and hypothyroidism syndrome (disorder) Associated morphology Pseudohypertrophy true Inferred relationship Some 2
Muscular pseudohypertrophy and hypothyroidism syndrome (disorder) Finding site Skeletal muscle structure true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Belgian GP subset (foundation metadata concept)

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