254217002: Hereditary acantholytic dermatosis (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\...

\Degenerative skin disorder (disorder)\Acantholysis of skin (disorder)\Hereditary acantholytic dermatosis

\Congenital anomaly of skin\Hereditary acantholytic dermatosis

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Acantholysis of skin (disorder)\Hereditary acantholytic dermatosis
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Hereditary acantholytic dermatosis
\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
\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

\Functional finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinization\Hereditary acantholytic dermatosis

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Hereditary acantholytic dermatosis
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinization\Hereditary acantholytic dermatosis
\Integumentary system finding\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Hereditary acantholytic dermatosis
\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
\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
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Acantholysis of skin (disorder)\Hereditary acantholytic dermatosis
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Hereditary acantholytic dermatosis
\Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinization\Hereditary acantholytic dermatosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Hereditary acantholytic dermatosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary acantholytic dermatosis
\Disease\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Hereditary acantholytic dermatosis
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Hereditary acantholytic dermatosis
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Acantholysis of skin (disorder)\Hereditary acantholytic dermatosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Hereditary acantholytic dermatosis
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Hereditary acantholytic dermatosis
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinization\Hereditary acantholytic dermatosis
\Disease\Disorder of body system\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Hereditary acantholytic dermatosis
\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
\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
\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
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Hereditary acantholytic dermatosis
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary acantholytic dermatosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Hereditary acantholytic dermatosis

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378443014 Hereditary acantholytic dermatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

645078018 Hereditary acantholytic dermatosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5082841000241111 dermatose acontholytique héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary acantholytic dermatosis	Is a	Inherited disorder of keratinization	true	Inferred relationship	Some
Hereditary acantholytic dermatosis	Occurrence	Congenital	false	Inferred relationship	Some
Hereditary acantholytic dermatosis	Finding site	Skin structure	false	Inferred relationship	Some	1
Hereditary acantholytic dermatosis	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Some
Hereditary acantholytic dermatosis	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Hereditary acantholytic dermatosis	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Hereditary acantholytic dermatosis	Finding site	Skin structure	true	Inferred relationship	Some	1
Hereditary acantholytic dermatosis	Occurrence	Congenital	false	Inferred relationship	Some	2
Hereditary acantholytic dermatosis	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Hereditary acantholytic dermatosis	Finding site	Skin structure	false	Inferred relationship	Some	2
Hereditary acantholytic dermatosis	Finding site	Structure of integumentary system (body structure)	false	Inferred relationship	Some
Hereditary acantholytic dermatosis	Is a	Degenerative disorder	false	Inferred relationship	Some
Hereditary acantholytic dermatosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Hereditary acantholytic dermatosis	Is a	Congenital anomaly of skin	true	Inferred relationship	Some
Hereditary acantholytic dermatosis	Interprets	Keratinization	true	Inferred relationship	Some	3
Hereditary acantholytic dermatosis	Associated morphology	Acantholysis	true	Inferred relationship	Some	1
Hereditary acantholytic dermatosis	Has interpretation	Abnormal	true	Inferred relationship	Some	3
Hereditary acantholytic dermatosis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Hereditary acantholytic dermatosis	Is a	Keratosis	false	Inferred relationship	Some
Hereditary acantholytic dermatosis	Is a	Degenerative skin disorder (disorder)	false	Inferred relationship	Some
Hereditary acantholytic dermatosis	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Hereditary acantholytic dermatosis	Is a	Acantholysis of skin (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Darier disease	Is a	True	Hereditary acantholytic dermatosis	Inferred relationship	Some
Nail dystrophy due to Darier's disease (disorder)	Is a	True	Hereditary acantholytic dermatosis	Inferred relationship	Some
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.	Is a	True	Hereditary acantholytic dermatosis	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378443014	Hereditary acantholytic dermatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
645078018	Hereditary acantholytic dermatosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5082841000241111	dermatose acontholytique héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module