716088000: Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Skin AND/OR mucosa finding\Skin finding\Mass of skin\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Skin AND/OR mucosa finding\Skin finding\Hair follicle finding\Hair follicle disorder\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Skin AND/OR mucosa finding\Skin finding\Hair finding\Disorder of hair\Alopecia\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Disorder of skin appendage\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Disorder of skin appendage\Hair follicle disorder\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome

\Mass of body structure\Mass of soft tissue\Mass of skin\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Mass of body structure\Hamartoma of integument\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Mass of body structure\Mass of body region\Mass of skin\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome

\General finding of soft tissue\Mass of soft tissue\Mass of skin\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\General finding of soft tissue\Skin finding\Mass of skin\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\General finding of soft tissue\Skin finding\Hair follicle finding\Hair follicle disorder\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Alopecia\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Hair follicle disorder\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Hair follicle disorder\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome

\Functional finding\Mucociliary clearance defect\Inherited mucociliary clearance defect\Cystic fibrosis\Follicular hamartoma with alopecia and cystic fibrosis syndrome

\Integumentary system finding\Disorder of integument\Hamartoma of integument\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Hair follicle disorder\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Integumentary system finding\Skin finding\Mass of skin\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Integumentary system finding\Skin finding\Hair follicle finding\Hair follicle disorder\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Alopecia\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Hair follicle disorder\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome

\Respiratory finding\Respiratory disease\Mucociliary clearance defect\Inherited mucociliary clearance defect\Cystic fibrosis\Follicular hamartoma with alopecia and cystic fibrosis syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Inherited mucociliary clearance defect\Cystic fibrosis\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Cystic fibrosis\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Disease\Neoplasm and/or hamartoma\Hamartoma\Hamartoma of integument\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Inherited mucociliary clearance defect\Cystic fibrosis\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Disease\Disorder of body system\Disorder of integument\Hamartoma of integument\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Hair follicle disorder\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Disease\Disorder of body system\Respiratory disease\Mucociliary clearance defect\Inherited mucociliary clearance defect\Cystic fibrosis\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Hair follicle disorder\Follicular hamartoma with alopecia and cystic fibrosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Follicular hamartoma with alopecia and cystic fibrosis syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3304685012 Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3304686013 Follicular hamartoma with alopecia and cystic fibrosis syndrome en Synonym Active Case insensitive SNOMED CT core
3304687016 A very rare disorder reported in three children of consanguineous parents with manifestation of follicular hamartoma, senile facies, partial alopecia, and hypohidrosis, severely delayed growth, skin hyperelasticity and cystic fibrosis. There have been no further descriptions in the literature since 1995. en Definition Inactive Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Follicular hamartoma with alopecia and cystic fibrosis syndrome	Is a	Hair follicle disorder	true	Inferred relationship	Some
Follicular hamartoma with alopecia and cystic fibrosis syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Follicular hamartoma with alopecia and cystic fibrosis syndrome	Is a	Alopecia	true	Inferred relationship	Some
Follicular hamartoma with alopecia and cystic fibrosis syndrome	Is a	Cystic fibrosis	true	Inferred relationship	Some
Follicular hamartoma with alopecia and cystic fibrosis syndrome	Is a	Hair follicle finding	false	Inferred relationship	Some
Follicular hamartoma with alopecia and cystic fibrosis syndrome	Is a	Hamartoma of skin	false	Inferred relationship	Some
Follicular hamartoma with alopecia and cystic fibrosis syndrome	Is a	Hamartoma of pilosebaceous apparatus	true	Inferred relationship	Some
Follicular hamartoma with alopecia and cystic fibrosis syndrome	Associated morphology	Absence	true	Inferred relationship	Some	2
Follicular hamartoma with alopecia and cystic fibrosis syndrome	Finding site	Hair structure	true	Inferred relationship	Some	2
Follicular hamartoma with alopecia and cystic fibrosis syndrome	Associated morphology	Hamartoma	true	Inferred relationship	Some	3
Follicular hamartoma with alopecia and cystic fibrosis syndrome	Finding site	Hair follicle structure	true	Inferred relationship	Some	3
Follicular hamartoma with alopecia and cystic fibrosis syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	1
Follicular hamartoma with alopecia and cystic fibrosis syndrome	Interprets	Mucociliary clearance	true	Inferred relationship	Some	1
Follicular hamartoma with alopecia and cystic fibrosis syndrome	Associated morphology	Defect	true	Inferred relationship	Some	4
Follicular hamartoma with alopecia and cystic fibrosis syndrome	Finding site	Respiratory tract structure	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Respiratory finding reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3304685012	Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3304686013	Follicular hamartoma with alopecia and cystic fibrosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3304687016	A very rare disorder reported in three children of consanguineous parents with manifestation of follicular hamartoma, senile facies, partial alopecia, and hypohidrosis, severely delayed growth, skin hyperelasticity and cystic fibrosis. There have been no further descriptions in the literature since 1995.	en	Definition	Inactive	Case sensitive	SNOMED CT core