764523004: familiaire geïsoleerde trichomegalie (aandoening)

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

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

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

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Familial isolated trichomegaly
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Familial isolated trichomegaly

\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Head finding (finding)\Finding of head region\Finding of eye region\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Head finding (finding)\Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\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)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Familial isolated trichomegaly
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Familial isolated trichomegaly

\Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Eye / vision finding\Finding of eye region\Eyelid finding\Disorder of eyelid\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Familial isolated trichomegaly
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality 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 involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Familial isolated trichomegaly
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\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)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Familial isolated trichomegaly
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\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 (disorder)\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 foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Familial isolated trichomegaly
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Familial isolated trichomegaly
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\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 involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Familial isolated trichomegaly
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Familial isolated trichomegaly
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Familial isolated trichomegaly
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of ocular adnexa (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of eyelid\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Disease\Familial disease\Familial isolated trichomegaly
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\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)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Familial isolated trichomegaly
\Disease\Developmental disorder\Developmental hereditary disorder\Familial isolated trichomegaly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of ocular adnexa (disorder)\Congenital structural abnormality of eyelid\Familial isolated trichomegaly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Familial isolated trichomegaly

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

3650201015 Familial isolated trichomegaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3650202010 Familial isolated trichomegaly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6584601000146115 familiaire geïsoleerde trichomegalie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6584611000146118 familiaire geïsoleerde trichomegalie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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 Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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 structural abnormality 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 (disorder)	true	Inferred relationship	Some
Familial isolated trichomegaly	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	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
Familial isolated trichomegaly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Familial isolated trichomegaly	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Familial isolated trichomegaly	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3650201015	Familial isolated trichomegaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3650202010	Familial isolated trichomegaly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6584601000146115	familiaire geïsoleerde trichomegalie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6584611000146118	familiaire geïsoleerde trichomegalie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core