403795009: Autosomal recessive familial wooly hair (disorder)

SNOMED CT Concept\constatation clinique\...

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

\constatation à propos de la pilosité\trouble de la pilosité\...

\Disorder of hair shaft\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair

\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair

\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair shaft\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair

\constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Disorder of hair shaft\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\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\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\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\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\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\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\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\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\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\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Autosomal recessive familial woolly hair
\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\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\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\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\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\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Disorder of hair shaft\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Disorder of hair shaft\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair

\Disease\Genetic disease\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Autosomal recessive familial woolly hair
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Autosomal recessive familial woolly hair
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive familial woolly hair
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Autosomal recessive familial woolly hair
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Autosomal recessive familial woolly hair
\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\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\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\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\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\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\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\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\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\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\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\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair
\Disease\trouble du développement\Developmental hereditary disorder\Autosomal recessive familial woolly hair
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital wooly hair (disorder)\Autosomal recessive familial woolly hair

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1771721010 Autosomal recessive familial woolly hair (disorder) en Fully specified name Inactive Entire term case insensitive (core metadata concept) SNOMED CT core
1782805017 Autosomal recessive familial woolly hair en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3779275016 Autosomal recessive familial wooly hair en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3779276015 Autosomal recessive familial wooly hair (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive familial woolly hair	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	1
Autosomal recessive familial woolly hair	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal recessive familial woolly hair	est un(e) (attribut)	Hereditary disorder of the integument	true	Inferred relationship	Some
Autosomal recessive familial woolly hair	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive familial woolly hair	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Autosomal recessive familial woolly hair	est un(e) (attribut)	Congenital wooly hair (disorder)	true	Inferred relationship	Some
Autosomal recessive familial woolly hair	survenue (attribut)	congénital	false	Inferred relationship	Some
Autosomal recessive familial woolly hair	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some
Autosomal recessive familial woolly hair	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Autosomal recessive familial woolly hair	localisation d'une constatation (attribut)	Hair structure (body structure)	false	Inferred relationship	Some
Autosomal recessive familial woolly hair	localisation d'une constatation (attribut)	Hair shaft structure	false	Inferred relationship	Some	1
Autosomal recessive familial woolly hair	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Autosomal recessive familial woolly hair	localisation d'une constatation (attribut)	Hair shaft structure	true	Inferred relationship	Some	1
Autosomal recessive familial woolly hair	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Autosomal recessive familial woolly hair	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	2
Autosomal recessive familial woolly hair	localisation d'une constatation (attribut)	Hair shaft structure	false	Inferred relationship	Some	2
Autosomal recessive familial woolly hair	survenue (attribut)	congénital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	est un(e) (attribut)	True	Autosomal recessive familial woolly hair	Inferred relationship	Some
Naxos disease	est un(e) (attribut)	True	Autosomal recessive familial woolly hair	Inferred relationship	Some
Wooly hair with palmoplantar keratoderma syndrome	est un(e) (attribut)	True	Autosomal recessive familial woolly hair	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1771721010	Autosomal recessive familial woolly hair (disorder)	en	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
1782805017	Autosomal recessive familial woolly hair	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3779275016	Autosomal recessive familial wooly hair	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3779276015	Autosomal recessive familial wooly hair (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core