403781006: Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature 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\PIBIDS syndrome, photosensitivity with IBIDS
\Skin AND/OR mucosa finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\Skin AND/OR mucosa finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\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\PIBIDS syndrome, photosensitivity with IBIDS
\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\PIBIDS syndrome, photosensitivity with IBIDS
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Genetic defect of hair shaft\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\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\PIBIDS syndrome, photosensitivity with IBIDS
\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\PIBIDS syndrome, photosensitivity with IBIDS
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Genetic defect of hair shaft\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Genetic defect of hair shaft\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\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\PIBIDS syndrome, photosensitivity with IBIDS
\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\PIBIDS syndrome, photosensitivity with IBIDS
\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\PIBIDS syndrome, photosensitivity with IBIDS
\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\PIBIDS syndrome, photosensitivity with IBIDS
\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\PIBIDS syndrome, photosensitivity with IBIDS

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\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\PIBIDS syndrome, photosensitivity with IBIDS
\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\PIBIDS syndrome, photosensitivity with IBIDS
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\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\PIBIDS syndrome, photosensitivity with IBIDS
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Genetic defect of hair shaft\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\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\PIBIDS syndrome, photosensitivity with IBIDS
\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\PIBIDS syndrome, photosensitivity with IBIDS
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Genetic defect of hair shaft\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS

\Disease\Genetic disease\Genetic defect of hair shaft\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\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\PIBIDS syndrome, photosensitivity with IBIDS
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\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\PIBIDS syndrome, photosensitivity with IBIDS
\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\PIBIDS syndrome, photosensitivity with IBIDS
\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\PIBIDS syndrome, photosensitivity with IBIDS
\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\PIBIDS syndrome, photosensitivity with IBIDS
\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\PIBIDS syndrome, photosensitivity with IBIDS
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\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\PIBIDS syndrome, photosensitivity with IBIDS
\Disease\Congenital disease\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Genetic defect of hair shaft\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\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\PIBIDS syndrome, photosensitivity with IBIDS
\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\PIBIDS syndrome, photosensitivity with IBIDS
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\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\PIBIDS syndrome, photosensitivity with IBIDS
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Genetic defect of hair shaft\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\Disease\Developmental disorder\Developmental hereditary disorder\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Genetic defect of hair shaft\Trichothiodystrophy\PIBIDS syndrome, photosensitivity with IBIDS

Status: current, Primitive. Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1782791014 PIBIDS syndrome, photosensitivity with IBIDS en Synonym Active Case sensitive SNOMED CT core

2973045014 Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome en Synonym Active Case insensitive SNOMED CT core

2973263016 Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
PIBIDS syndrome, photosensitivity with IBIDS	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
PIBIDS syndrome, photosensitivity with IBIDS	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	2
PIBIDS syndrome, photosensitivity with IBIDS	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
PIBIDS syndrome, photosensitivity with IBIDS	Finding site	Hair shaft structure	true	Inferred relationship	Some	2
PIBIDS syndrome, photosensitivity with IBIDS	Pathological process	Pathological developmental process	false	Inferred relationship	Some	3
PIBIDS syndrome, photosensitivity with IBIDS	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	3
PIBIDS syndrome, photosensitivity with IBIDS	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
PIBIDS syndrome, photosensitivity with IBIDS	Associated morphology	Defect	true	Inferred relationship	Some	2
PIBIDS syndrome, photosensitivity with IBIDS	Is a	Genetic defect of hair shaft	false	Inferred relationship	Some
PIBIDS syndrome, photosensitivity with IBIDS	Occurrence	Congenital	false	Inferred relationship	Some
PIBIDS syndrome, photosensitivity with IBIDS	Finding site	Skin structure	false	Inferred relationship	Some
PIBIDS syndrome, photosensitivity with IBIDS	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
PIBIDS syndrome, photosensitivity with IBIDS	Finding site	Hair structure	false	Inferred relationship	Some
PIBIDS syndrome, photosensitivity with IBIDS	Finding site	Hair shaft structure	false	Inferred relationship	Some	1
PIBIDS syndrome, photosensitivity with IBIDS	Finding site	Hair shaft structure	false	Inferred relationship	Some	1
PIBIDS syndrome, photosensitivity with IBIDS	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
PIBIDS syndrome, photosensitivity with IBIDS	Occurrence	Congenital	true	Inferred relationship	Some	2
PIBIDS syndrome, photosensitivity with IBIDS	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
PIBIDS syndrome, photosensitivity with IBIDS	Finding site	Hair structure	false	Inferred relationship	Some	2
PIBIDS syndrome, photosensitivity with IBIDS	Occurrence	Congenital	false	Inferred relationship	Some	3
PIBIDS syndrome, photosensitivity with IBIDS	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
PIBIDS syndrome, photosensitivity with IBIDS	Finding site	Hair shaft structure	false	Inferred relationship	Some	3
PIBIDS syndrome, photosensitivity with IBIDS	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	1
PIBIDS syndrome, photosensitivity with IBIDS	Occurrence	Congenital	true	Inferred relationship	Some	1
PIBIDS syndrome, photosensitivity with IBIDS	Is a	Trichothiodystrophy	true	Inferred relationship	Some
PIBIDS syndrome, photosensitivity with IBIDS	Finding site	Skin structure	false	Inferred relationship	Some	1
PIBIDS syndrome, photosensitivity with IBIDS	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
PIBIDS syndrome, photosensitivity with IBIDS	Finding site	Ectoderm structure	false	Inferred relationship	Some	2
PIBIDS syndrome, photosensitivity with IBIDS	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
PIBIDS syndrome, photosensitivity with IBIDS	Finding site	Ectoderm structure	true	Inferred relationship	Some	1
PIBIDS syndrome, photosensitivity with IBIDS	Finding site	Skin structure	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1782791014	PIBIDS syndrome, photosensitivity with IBIDS	en	Synonym	Active	Case sensitive	SNOMED CT core
2973045014	Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
2973263016	Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core