764523004: Familial isolated trichomegaly (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\...

\Hair finding\Disorder of hair\Congenital anomaly of hair\Familial isolated trichomegaly

\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Familial isolated trichomegaly
\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Familial isolated trichomegaly

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Familial isolated trichomegaly
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Familial isolated trichomegaly
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Familial isolated trichomegaly
\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\Congenital anomaly of hair\Familial isolated trichomegaly
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Familial isolated trichomegaly

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Familial isolated trichomegaly
\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Familial isolated trichomegaly
\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Familial isolated trichomegaly
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Familial isolated trichomegaly
\Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Familial isolated trichomegaly

\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Familial isolated trichomegaly
\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Familial isolated trichomegaly
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Familial isolated trichomegaly
\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Familial isolated trichomegaly
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Familial isolated trichomegaly
\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Familial isolated trichomegaly

\Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Familial isolated trichomegaly
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Familial isolated trichomegaly
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Familial isolated trichomegaly
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Familial isolated trichomegaly
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Familial isolated trichomegaly

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Familial isolated trichomegaly
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Familial isolated trichomegaly
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Familial isolated trichomegaly
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Familial isolated trichomegaly
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Familial isolated trichomegaly
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Familial isolated trichomegaly
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Familial isolated trichomegaly

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Familial isolated trichomegaly
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Familial isolated trichomegaly
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Familial isolated trichomegaly
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Familial isolated trichomegaly
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Familial isolated trichomegaly
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Familial isolated trichomegaly
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Familial isolated trichomegaly
\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\Congenital anomaly of hair\Familial isolated trichomegaly
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Familial isolated trichomegaly
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Familial isolated trichomegaly
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Familial isolated trichomegaly
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Familial isolated trichomegaly
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Familial isolated trichomegaly
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Familial isolated trichomegaly
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Familial isolated trichomegaly
\Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Familial isolated trichomegaly
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Familial isolated trichomegaly
\Disease\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Familial isolated trichomegaly
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Familial isolated trichomegaly
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Familial isolated trichomegaly
\Disease\Familial disease\Familial isolated trichomegaly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Familial isolated trichomegaly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Familial isolated trichomegaly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Familial isolated trichomegaly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Familial isolated trichomegaly
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Familial isolated trichomegaly
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Familial isolated trichomegaly
\Disease\Developmental disorder\Developmental hereditary disorder\Familial isolated trichomegaly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Familial isolated trichomegaly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Familial isolated trichomegaly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Familial isolated trichomegaly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Familial isolated trichomegaly

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

Descriptions:

Id Description Lang Type Status Case? Module

3650201015 Familial isolated trichomegaly en Synonym Active Case insensitive SNOMED CT core

3650202010 Familial isolated trichomegaly (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3649936012 A rare genetic hair anomaly with characteristics of a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated. There is evidence the disease is caused by homozygous mutation in the FGF5 gene on chromosome 4q21. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial isolated trichomegaly	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Familial isolated trichomegaly	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Familial isolated trichomegaly	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Familial isolated trichomegaly	Is a	Congenital anomaly of hair	true	Inferred relationship	Some
Familial isolated trichomegaly	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Familial isolated trichomegaly	Is a	Congenital anomaly of eyelid	true	Inferred relationship	Some
Familial isolated trichomegaly	Is a	Familial disease	true	Inferred relationship	Some
Familial isolated trichomegaly	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Familial isolated trichomegaly	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Familial isolated trichomegaly	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	1
Familial isolated trichomegaly	Occurrence	Congenital	true	Inferred relationship	Some	1
Familial isolated trichomegaly	Finding site	Structure of eyelash	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3650201015	Familial isolated trichomegaly	en	Synonym	Active	Case insensitive	SNOMED CT core
3650202010	Familial isolated trichomegaly (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3649936012	A rare genetic hair anomaly with characteristics of a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated. There is evidence the disease is caused by homozygous mutation in the FGF5 gene on chromosome 4q21.	en	Definition	Active	Case sensitive	SNOMED CT core