403781006: Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding (finding)\...
• \Hair finding\Disorder of hair\...
• \Disorder of hair shaft\Genetic defect of hair shaft (disorder)\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Congenital anomaly of hair\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Ectodermal dysplasia\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \General finding of soft tissue\Skin finding (finding)\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \General finding of soft tissue\Skin finding (finding)\Hair finding\Disorder of hair\Congenital anomaly of hair\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Ectodermal dysplasia\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \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)\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \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\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \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 (disorder)\Ectodermal dysplasia\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \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\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Ectodermal dysplasia\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \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\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \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)\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \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\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Ectodermal dysplasia\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \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\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Integumentary system finding\Skin finding (finding)\Hair finding\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Integumentary system finding\Skin finding (finding)\Hair finding\Disorder of hair\Congenital anomaly of hair\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Genetic defect of hair shaft (disorder)\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Ectodermal dysplasia\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Disease\Genetic disease\Genetic defect of hair shaft (disorder)\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Ectodermal dysplasia\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \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\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Ectodermal dysplasia\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \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 (disorder)\Ectodermal dysplasia\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \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\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \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)\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \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\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \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 (disorder)\Ectodermal dysplasia\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \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\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \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)\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \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\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Ectodermal dysplasia\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \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\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Ectodermal dysplasia\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.\Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1782791014	PIBIDS syndrome, photosensitivity with IBIDS	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2973045014	Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2973263016	Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1738601000005110	PIBIDS-syndrom, fotosensibilitet med IBIDS	da	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Danish module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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