1003920007: Sabinas brittle hair syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Skin AND/OR mucosa finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Skin AND/OR mucosa finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy\Sabinas brittle hair syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy\Sabinas brittle hair syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy\Sabinas brittle hair syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Trichothiodystrophy\Sabinas brittle hair syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy\Sabinas brittle hair syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy\Sabinas brittle hair syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy\Sabinas brittle hair syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome

\Disease\Genetic disease\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Trichothiodystrophy\Sabinas brittle hair syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Trichothiodystrophy\Sabinas brittle hair syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Trichothiodystrophy\Sabinas brittle hair syndrome
\Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Trichothiodystrophy\Sabinas brittle hair syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Trichothiodystrophy\Sabinas brittle hair syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Trichothiodystrophy\Sabinas brittle hair syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy\Sabinas brittle hair syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy\Sabinas brittle hair syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Trichothiodystrophy\Sabinas brittle hair syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy\Sabinas brittle hair syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy\Sabinas brittle hair syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Trichothiodystrophy\Sabinas brittle hair syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Trichothiodystrophy\Sabinas brittle hair syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy\Sabinas brittle hair syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\Sabinas brittle hair syndrome

Status: current, Primitive. 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 Case sensitive SNOMED CT core

4166971017 Sabinas brittle hair syndrome en Synonym Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sabinas brittle hair syndrome	Is a	Trichothiodystrophy	true	Inferred relationship	Some
Sabinas brittle hair syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Sabinas brittle hair syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Sabinas brittle hair syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Sabinas brittle hair syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Some	1
Sabinas brittle hair syndrome	Finding site	Hair shaft structure	true	Inferred relationship	Some	2
Sabinas brittle hair syndrome	Associated morphology	Defect	true	Inferred relationship	Some	2
Sabinas brittle hair syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Sabinas brittle hair syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set