723830005: Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \Rough skin (finding)\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Hair follicle finding\Hair follicle disorder\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Hair follicle finding\Abnormal keratinization of hair follicle\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disorder of skin (disorder)\Keratoderma\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Acantholysis of skin (disorder)\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disorder of skin (disorder)\Disorder of skin appendage\Hair follicle disorder\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disorder of skin (disorder)\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \General finding of soft tissue\Skin finding\Rough skin (finding)\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \General finding of soft tissue\Skin finding\Hair follicle finding\Hair follicle disorder\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \General finding of soft tissue\Skin finding\Hair follicle finding\Abnormal keratinization of hair follicle\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Keratoderma\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Acantholysis of skin (disorder)\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Hair follicle disorder\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Acantholysis of skin (disorder)\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy 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\Hair follicle disorder\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy 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\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Functional finding\Abnormal keratinization\...
• \Rough skin (finding)\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disorder of keratinisation\Inherited disorder of keratinisation\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disorder of keratinisation\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Abnormal keratinization of hair follicle\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\Disorder of integument\Disorder of keratinisation\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Acantholysis of skin (disorder)\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Hair follicle disorder\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\Skin finding\Rough skin (finding)\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\Skin finding\Hair follicle finding\Hair follicle disorder\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\Skin finding\Hair follicle finding\Abnormal keratinization of hair follicle\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Keratoderma\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Acantholysis of skin (disorder)\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Hair follicle disorder\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\Abnormal keratinization\Rough skin (finding)\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\Abnormal keratinization\Abnormal keratinization of hair follicle\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Acantholysis of skin (disorder)\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Degenerative disorder\Congenital degeneration of nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy 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\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Acantholysis of skin (disorder)\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy 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\Hair follicle disorder\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy 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\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Keratosis\Keratoderma\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral atrophy\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Acantholysis of skin (disorder)\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Hair follicle disorder\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Keratosis follicularis, dwarfism, cerebral atrophy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3426322013	Keratosis follicularis, dwarfism, cerebral atrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3426323015	Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403173012	A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403174018	A rare, genetic, developmental defect during embryogenesis syndrome characterised by generalised keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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