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765187004: Stiff skin syndrome (disorder)


Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3657376010 Stiff skin syndrome en Synonym Active Case insensitive SNOMED CT core
3657377018 Stiff skin syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3657378011 A rare slowly progressive cutaneous disease with characteristics of rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities or visceral, muscular or bone involvement has been described. en Definition Active Case sensitive SNOMED CT core


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Stiff skin syndrome Associated morphology Fibrosis true Inferred relationship Some 1
Stiff skin syndrome Finding site Skin structure true Inferred relationship Some 1
Stiff skin syndrome Is a Fibrosis of the skin true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Infantile stiff skin syndrome Is a True Stiff skin syndrome Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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