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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
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
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Muscular pseudohypertrophy and hypothyroidism syndrome (disorder) est un(e) (attribut) hypothyroïdie true Inferred relationship Some
Muscular pseudohypertrophy and hypothyroidism syndrome (disorder) est un(e) (attribut) affection d'un muscle squelettique true Inferred relationship Some
Muscular pseudohypertrophy and hypothyroidism syndrome (disorder) est un(e) (attribut) Pseudohypertrophy of muscle true Inferred relationship Some
Muscular pseudohypertrophy and hypothyroidism syndrome (disorder) localisation d'une constatation (attribut) structure de la thyroïde true Inferred relationship Some 1
Muscular pseudohypertrophy and hypothyroidism syndrome (disorder) morphologie associée (attribut) Pseudohypertrophy (morphologic abnormality) true Inferred relationship Some 2
Muscular pseudohypertrophy and hypothyroidism syndrome (disorder) localisation d'une constatation (attribut) structure de muscle squelettique true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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