88220006: Pachydermoperiostosis syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Hypertrophic condition of skin\Pachydermoperiostosis syndrome

\Finding of limb structure\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Pachydermoperiostosis syndrome
\Finding of limb structure\Nail finding\Disorder of nail (disorder)\Clubbing of nail\Pachydermoperiostosis syndrome
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Pachydermoperiostosis syndrome
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of digit\Disorder of nail (disorder)\Clubbing of nail\Pachydermoperiostosis syndrome

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Hypertrophic condition of skin\Pachydermoperiostosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Hypertrophic condition of skin\Pachydermoperiostosis syndrome

\Integumentary system finding\Nail finding\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Pachydermoperiostosis syndrome
\Integumentary system finding\Nail finding\Disorder of nail (disorder)\Clubbing of nail\Pachydermoperiostosis syndrome
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Pachydermoperiostosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Hypertrophic condition of skin\Pachydermoperiostosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Pachydermoperiostosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of nail (disorder)\Clubbing of nail\Pachydermoperiostosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Hypertrophic condition of skin\Pachydermoperiostosis syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Bone inflammatory disease (disorder)\Periostitis\Pachydermoperiostosis syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Hypertrophic osteoarthropathy\Pachydermoperiostosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Pachydermoperiostosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Inflammatory disorder of musculoskeletal system\Bone inflammatory disease (disorder)\Periostitis\Pachydermoperiostosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Bone inflammatory disease (disorder)\Periostitis\Pachydermoperiostosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Hypertrophic osteoarthropathy\Pachydermoperiostosis syndrome

\Disease\Genetic disease\Genetic disorder of nail (disorder)\Pachydermoperiostosis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Pachydermoperiostosis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Pachydermoperiostosis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pachydermoperiostosis syndrome
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of musculoskeletal system\Bone inflammatory disease (disorder)\Periostitis\Pachydermoperiostosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Pachydermoperiostosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Pachydermoperiostosis syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Pachydermoperiostosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Hypertrophic condition of skin\Pachydermoperiostosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Pachydermoperiostosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of nail (disorder)\Clubbing of nail\Pachydermoperiostosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Pachydermoperiostosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Inflammatory disorder of musculoskeletal system\Bone inflammatory disease (disorder)\Periostitis\Pachydermoperiostosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Bone inflammatory disease (disorder)\Periostitis\Pachydermoperiostosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Hypertrophic osteoarthropathy\Pachydermoperiostosis syndrome
\Disease\Disorder of extremity (disorder)\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Pachydermoperiostosis syndrome
\Disease\Disorder of extremity (disorder)\Disorder of digit\Disorder of nail (disorder)\Clubbing of nail\Pachydermoperiostosis syndrome
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of musculoskeletal system\Bone inflammatory disease (disorder)\Periostitis\Pachydermoperiostosis syndrome
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Bone inflammatory disease (disorder)\Periostitis\Pachydermoperiostosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Hypertrophic condition of skin\Pachydermoperiostosis syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

146252018 Pachydermoperiostosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

146253011 Touraine-Solente-Golé syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

146254017 Primary hypertrophic osteoarthropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

507944012 Touraine-Solente-Gole syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

830858011 Pachydermoperiostosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4009988018 A form of primary hypertrophic osteoarthropathy, a rare hereditary disorder with characteristics of digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhoea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes. The disease typically begins during childhood or adolescence and may stabilise after 5-20 years of progression, or progress constantly. Mutations in the HPGD gene (4q33-q34) have been identified. The gene encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH), the main enzyme of prostaglandin degradation. Inherited as an autosomal recessive trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4009989014 A form of primary hypertrophic osteoarthropathy, a rare hereditary disorder with characteristics of digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes. The disease typically begins during childhood or adolescence and may stabilize after 5-20 years of progression, or progress constantly. Mutations in the HPGD gene (4q33-q34) have been identified. The gene encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH), the main enzyme of prostaglandin degradation. Inherited as an autosomal recessive trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

1809931000052118 pakydermoperiostos sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pachydermoperiostosis syndrome	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
Pachydermoperiostosis syndrome	Is a	Ectodermal dysplasia	false	Inferred relationship	Some
Pachydermoperiostosis syndrome	Is a	Disorder of bone (disorder)	false	Inferred relationship	Some
Pachydermoperiostosis syndrome	Finding site	Skeletal system structure	false	Inferred relationship	Some
Pachydermoperiostosis syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Pachydermoperiostosis syndrome	Finding site	Structure of all fingers	false	Inferred relationship	Some
Pachydermoperiostosis syndrome	Associated morphology	Hypertrophy	true	Inferred relationship	Some	2
Pachydermoperiostosis syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Pachydermoperiostosis syndrome	Associated morphology	Clubbing	true	Inferred relationship	Some	1
Pachydermoperiostosis syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Pachydermoperiostosis syndrome	Finding site	Bone structure	false	Inferred relationship	Some
Pachydermoperiostosis syndrome	Is a	Disorder of hand (disorder)	false	Inferred relationship	Some
Pachydermoperiostosis syndrome	Is a	Disorder of digit	false	Inferred relationship	Some
Pachydermoperiostosis syndrome	Associated morphology	kongenital anomali	false	Inferred relationship	Some
Pachydermoperiostosis syndrome	Is a	Disorder of finger	false	Inferred relationship	Some
Pachydermoperiostosis syndrome	Is a	Congenital anomaly of musculoskeletal system	false	Inferred relationship	Some
Pachydermoperiostosis syndrome	Is a	Disorder of bone (disorder)	false	Inferred relationship	Some
Pachydermoperiostosis syndrome	Is a	Congenital connective tissue disorder	false	Inferred relationship	Some
Pachydermoperiostosis syndrome	Is a	Disorder of soft tissue of limb	false	Inferred relationship	Some
Pachydermoperiostosis syndrome	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Pachydermoperiostosis syndrome	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Pachydermoperiostosis syndrome	Is a	Disorder of digit	false	Inferred relationship	Some
Pachydermoperiostosis syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Pachydermoperiostosis syndrome	Is a	Periostitis	true	Inferred relationship	Some
Pachydermoperiostosis syndrome	Is a	Hypertrophic condition of skin	true	Inferred relationship	Some
Pachydermoperiostosis syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Pachydermoperiostosis syndrome	Associated morphology	Clubbing	false	Inferred relationship	Some	1
Pachydermoperiostosis syndrome	Finding site	Phalanx structure	false	Inferred relationship	Some	1
Pachydermoperiostosis syndrome	Finding site	Skin structure	false	Inferred relationship	Some	2
Pachydermoperiostosis syndrome	Associated morphology	inflammation	false	Inferred relationship	Some	3
Pachydermoperiostosis syndrome	Associated morphology	Hypertrophy	false	Inferred relationship	Some	2
Pachydermoperiostosis syndrome	Finding site	Structure of periosteum (body structure)	false	Inferred relationship	Some	3
Pachydermoperiostosis syndrome	Finding site	Phalanx structure	false	Inferred relationship	Some	1
Pachydermoperiostosis syndrome	Finding site	Skin structure	true	Inferred relationship	Some	2
Pachydermoperiostosis syndrome	Associated morphology	inflammation	false	Inferred relationship	Some	3
Pachydermoperiostosis syndrome	Finding site	Structure of periosteum (body structure)	true	Inferred relationship	Some	3
Pachydermoperiostosis syndrome	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	3
Pachydermoperiostosis syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Pachydermoperiostosis syndrome	Is a	Hypertrophic osteoarthropathy	true	Inferred relationship	Some
Pachydermoperiostosis syndrome	Is a	Genetic disorder of nail (disorder)	true	Inferred relationship	Some
Pachydermoperiostosis syndrome	Is a	Clubbing of nail	true	Inferred relationship	Some
Pachydermoperiostosis syndrome	Finding site	Nail unit structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
146252018	Pachydermoperiostosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
146253011	Touraine-Solente-Golé syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
146254017	Primary hypertrophic osteoarthropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
507944012	Touraine-Solente-Gole syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
830858011	Pachydermoperiostosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4009988018	A form of primary hypertrophic osteoarthropathy, a rare hereditary disorder with characteristics of digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhoea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes. The disease typically begins during childhood or adolescence and may stabilise after 5-20 years of progression, or progress constantly. Mutations in the HPGD gene (4q33-q34) have been identified. The gene encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH), the main enzyme of prostaglandin degradation. Inherited as an autosomal recessive trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4009989014	A form of primary hypertrophic osteoarthropathy, a rare hereditary disorder with characteristics of digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes. The disease typically begins during childhood or adolescence and may stabilize after 5-20 years of progression, or progress constantly. Mutations in the HPGD gene (4q33-q34) have been identified. The gene encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH), the main enzyme of prostaglandin degradation. Inherited as an autosomal recessive trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1809931000052118	pakydermoperiostos	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)