783013001: Parana hard skin syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\...

\Chronic disease of skin\Parana hard skin syndrome

\Thickening of skin\Parana hard skin syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Chronic disease of skin\Parana hard skin syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Thickening of skin\Parana hard skin syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Chronic disease of skin\Parana hard skin syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Thickening of skin\Parana hard skin syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Parana hard skin syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Chronic disease of skin\Parana hard skin syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Thickening of skin\Parana hard skin syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Chronic disease of skin\Parana hard skin syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Thickening of skin\Parana hard skin syndrome

\Musculoskeletal finding\Joint finding\Arthropathy\Chronic arthropathy\Parana hard skin syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Parana hard skin syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Chronic arthropathy\Parana hard skin syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Chronic arthropathy\Parana hard skin syndrome

\Disease\Disorder of joint region\Arthropathy\Chronic arthropathy\Parana hard skin syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Parana hard skin syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Parana hard skin syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Parana hard skin syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Parana hard skin syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Parana hard skin syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Parana hard skin syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Chronic disease of skin\Parana hard skin syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Thickening of skin\Parana hard skin syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Parana hard skin syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Chronic arthropathy\Parana hard skin syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Chronic arthropathy\Parana hard skin syndrome
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Chronic arthropathy\Parana hard skin syndrome
\Disease\Chronic disease\Chronic disease of skin\Parana hard skin syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Chronic disease of skin\Parana hard skin syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Thickening of skin\Parana hard skin syndrome

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3757143017 Parana hard skin syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3757144011 Parana hard skin syndrome en Synonym Active Case sensitive SNOMED CT core

3757145012 Hard skin syndrome Parana type en Synonym Active Initial character case insensitive SNOMED CT core

3757146013 A rare genetic skin disorder with characteristics of very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints and eventual severe chest and abdomen movement restriction, manifesting with restrictive pulmonary disease, which may lead to death. Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Parana hard skin syndrome	Is a	Thickening of skin	true	Inferred relationship	Some
Parana hard skin syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Parana hard skin syndrome	Is a	Chronic disease of skin	true	Inferred relationship	Some
Parana hard skin syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Parana hard skin syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Parana hard skin syndrome	Is a	Chronic arthropathy	true	Inferred relationship	Some
Parana hard skin syndrome	Finding site	Joint structure	true	Inferred relationship	Some	2
Parana hard skin syndrome	Clinical course	Progressive	true	Inferred relationship	Some	1
Parana hard skin syndrome	Finding site	Skin structure	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3757143017	Parana hard skin syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3757144011	Parana hard skin syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3757145012	Hard skin syndrome Parana type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3757146013	A rare genetic skin disorder with characteristics of very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints and eventual severe chest and abdomen movement restriction, manifesting with restrictive pulmonary disease, which may lead to death. Additional features include severe growth restriction and osteoporosis. There have been no further descriptions in the literature since 1974.	en	Definition	Active	Case sensitive	SNOMED CT core