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765187004: Stiff skin syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3657376010 Stiff skin syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3657377018 Stiff skin syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
4153331000052110 stiff skin-syndrom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


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 (disorder) Is a True Stiff skin syndrome Inferred relationship Some

Reference Sets

GB English

US English

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