1003920007: Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Skin lesion\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)

\Disease\Genetic disease\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (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)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4166970016 Sabinas brittle hair syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

4166971017 Sabinas brittle hair syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sabinas brittle hair syndrome (disorder)	est un(e) (attribut)	Trichothiodystrophy (disorder)	true	Inferred relationship	Some
Sabinas brittle hair syndrome (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Sabinas brittle hair syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Sabinas brittle hair syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Sabinas brittle hair syndrome (disorder)	localisation d'une constatation (attribut)	Ectoderm structure	true	Inferred relationship	Some	1
Sabinas brittle hair syndrome (disorder)	localisation d'une constatation (attribut)	Hair shaft structure	true	Inferred relationship	Some	2
Sabinas brittle hair syndrome (disorder)	morphologie associée (attribut)	Defect	true	Inferred relationship	Some	2
Sabinas brittle hair syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Sabinas brittle hair syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets