1003920007: Sabinas brittle hair syndrome (disorder)

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

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

\Hair finding\Disorder of hair\...

\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)

\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\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\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\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\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\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\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\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\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\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\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\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\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\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\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\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\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\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\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\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\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\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\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\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\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\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\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\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\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\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\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\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\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\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\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy (disorder)\Sabinas brittle hair syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\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)	Is a	Trichothiodystrophy (disorder)	true	Inferred relationship	Some
Sabinas brittle hair syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Sabinas brittle hair syndrome (disorder)	Occurrence	Congenital	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)	Finding site	Ectoderm structure	true	Inferred relationship	Some	1
Sabinas brittle hair syndrome (disorder)	Finding site	Hair shaft structure	true	Inferred relationship	Some	2
Sabinas brittle hair syndrome (disorder)	Associated morphology	Defect	false	Inferred relationship	Some	2
Sabinas brittle hair syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Sabinas brittle hair syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Sabinas brittle hair syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

Back to Start

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