723830005: syndrome de kératose folliculaire-nanisme-atrophie cérébrale (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\...
• \Rough skin (finding)\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \affection de la peau (trouble)\Keratoderma\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \affection de la peau (trouble)\Degenerative skin disorder (disorder)\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \affection de la peau (trouble)\Disorder of skin appendage\Hair follicle disorder\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \affection de la peau (trouble)\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \constatation générale à propos des tissus mous\Skin finding\Rough skin (finding)\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Keratoderma\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Degenerative skin disorder (disorder)\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\Hair follicle disorder\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\Hair follicle disorder\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\...
• \anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \constatation fonctionnelle\Abnormal keratinisation\...
• \Rough skin (finding)\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disorder of keratinisation\Inherited disorder of keratinization\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disorder of keratinisation\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\Hair follicle disorder\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\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\affection de la peau (trouble)\Keratoderma\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Degenerative skin disorder (disorder)\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\Hair follicle disorder\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\Abnormal keratinisation\Rough skin (finding)\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Genetic disease\maladie héréditaire\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\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\affection dégénérative\Degenerative skin disorder (disorder)\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\affection dégénérative\Congenital degeneration of nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\Hair follicle disorder\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\kératose\Keratoderma\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\atrophie cérébrale\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\Hair follicle disorder\Follicular keratosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital anomaly of cerebrum (disorder)\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Hereditary acantholytic dermatosis\Keratosis follicularis, dwarfism, cerebral atrophy syndrome
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\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
760031000241110	syndrome de kératose folliculaire-nanisme-atrophie cérébrale (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
957131000172119	syndrome de kératose folliculaire-nanisme-atrophie cérébrale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3426320017	Syndrome that is characterised by generalised keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalised alopecia and microcephaly were also present.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3426321018	Syndrome that is characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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