402774006: Genetic defect of hair shaft (disorder)

SNOMED CT Concept\constatation clinique\...

\Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Genetic defect of hair shaft (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Disorder of hair shaft\Genetic defect of hair shaft (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Congenital anomaly of hair\Genetic defect of hair shaft (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair shaft\Genetic defect of hair shaft (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Genetic defect of hair shaft (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Genetic defect of hair shaft (disorder)

\constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Disorder of hair shaft\Genetic defect of hair shaft (disorder)
\constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Congenital anomaly of hair\Genetic defect of hair shaft (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair shaft\Genetic defect of hair shaft (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Genetic defect of hair shaft (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Skin lesion\Genetic defect of hair shaft (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Genetic defect of hair shaft (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair shaft\Genetic defect of hair shaft (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Genetic defect of hair shaft (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Genetic defect of hair shaft (disorder)

\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair shaft\Genetic defect of hair shaft (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Genetic defect of hair shaft (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Genetic defect of hair shaft (disorder)
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft (disorder)
\Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Disorder of hair shaft\Genetic defect of hair shaft (disorder)
\Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Congenital anomaly of hair\Genetic defect of hair shaft (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair shaft\Genetic defect of hair shaft (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Genetic defect of hair shaft (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Genetic defect of hair shaft (disorder)

\Disease\Genetic disease\Genetic defect of hair shaft (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair shaft\Genetic defect of hair shaft (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Genetic defect of hair shaft (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Genetic defect of hair shaft (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft (disorder)
\Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Genetic defect of hair shaft (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair shaft\Genetic defect of hair shaft (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Genetic defect of hair shaft (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Genetic defect of hair shaft (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1770698014 Genetic defect of hair shaft (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1781868019 Genetic defect of hair shaft en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3662700013 Genetic abnormality of hair shaft en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Genetic defect of hair shaft (disorder)	morphologie associée (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some	1
Genetic defect of hair shaft (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Genetic defect of hair shaft (disorder)	morphologie associée (attribut)	Defect	true	Inferred relationship	Some	1
Genetic defect of hair shaft (disorder)	est un(e) (attribut)	Genetic disease	true	Inferred relationship	Some
Genetic defect of hair shaft (disorder)	est un(e) (attribut)	Skin lesion	true	Inferred relationship	Some
Genetic defect of hair shaft (disorder)	est un(e) (attribut)	trouble de la pilosité	false	Inferred relationship	Some
Genetic defect of hair shaft (disorder)	est un(e) (attribut)	Congenital anomaly of hair	true	Inferred relationship	Some
Genetic defect of hair shaft (disorder)	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Genetic defect of hair shaft (disorder)	localisation d'une constatation (attribut)	Hair structure (body structure)	false	Inferred relationship	Some
Genetic defect of hair shaft (disorder)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some
Genetic defect of hair shaft (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some
Genetic defect of hair shaft (disorder)	est un(e) (attribut)	Disorder of hair shaft	true	Inferred relationship	Some
Genetic defect of hair shaft (disorder)	localisation d'une constatation (attribut)	Hair shaft structure	false	Inferred relationship	Some	1
Genetic defect of hair shaft (disorder)	localisation d'une constatation (attribut)	Hair shaft structure	true	Inferred relationship	Some	1
Genetic defect of hair shaft (disorder)	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Genetic defect of hair shaft (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Genetic defect of hair shaft (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	2
Genetic defect of hair shaft (disorder)	localisation d'une constatation (attribut)	Hair structure (body structure)	false	Inferred relationship	Some	2
Genetic defect of hair shaft (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Genetic defect of hair shaft (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	3
Genetic defect of hair shaft (disorder)	localisation d'une constatation (attribut)	Hair shaft structure	false	Inferred relationship	Some	3
Genetic defect of hair shaft (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome	est un(e) (attribut)	False	Genetic defect of hair shaft (disorder)	Inferred relationship	Some
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	est un(e) (attribut)	False	Genetic defect of hair shaft (disorder)	Inferred relationship	Some
Genetic abnormality of hair shaft (disorder)	est un(e) (attribut)	False	Genetic defect of hair shaft (disorder)	Inferred relationship	Some
Trichothiodystrophy (disorder)	est un(e) (attribut)	True	Genetic defect of hair shaft (disorder)	Inferred relationship	Some
Trichodysplasia xeroderma syndrome (disorder)	est un(e) (attribut)	True	Genetic defect of hair shaft (disorder)	Inferred relationship	Some

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
1770698014	Genetic defect of hair shaft (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1781868019	Genetic defect of hair shaft	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662700013	Genetic abnormality of hair shaft	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core