1187178004: Isolated generalized anhidrosis with normal sweat glands (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\...

\Finding of sweating\Anhidrosis\Isolated generalized anhidrosis with normal sweat glands

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of sweat gland (disorder)\...

\Disorder of eccrine sweat glands (disorder)\Isolated generalized anhidrosis with normal sweat glands

\Anhidrosis\Isolated generalized anhidrosis with normal sweat glands

\General finding of soft tissue\Skin finding\Finding of sweating\Anhidrosis\Isolated generalized anhidrosis with normal sweat glands
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of sweat gland (disorder)\Disorder of eccrine sweat glands (disorder)\Isolated generalized anhidrosis with normal sweat glands
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of sweat gland (disorder)\Anhidrosis\Isolated generalized anhidrosis with normal sweat glands
\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 sweat gland (disorder)\Disorder of eccrine sweat glands (disorder)\Isolated generalized anhidrosis with normal sweat glands
\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 sweat gland (disorder)\Anhidrosis\Isolated generalized anhidrosis with normal sweat glands

\Functional finding\Finding of sweating\Anhidrosis\Isolated generalized anhidrosis with normal sweat glands

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Isolated generalized anhidrosis with normal sweat glands
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Isolated generalized anhidrosis with normal sweat glands
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of sweat gland (disorder)\Disorder of eccrine sweat glands (disorder)\Isolated generalized anhidrosis with normal sweat glands
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of sweat gland (disorder)\Anhidrosis\Isolated generalized anhidrosis with normal sweat glands
\Integumentary system finding\Skin finding\Finding of sweating\Anhidrosis\Isolated generalized anhidrosis with normal sweat glands
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of sweat gland (disorder)\Disorder of eccrine sweat glands (disorder)\Isolated generalized anhidrosis with normal sweat glands
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of sweat gland (disorder)\Anhidrosis\Isolated generalized anhidrosis with normal sweat glands

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Isolated generalized anhidrosis with normal sweat glands
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Isolated generalized anhidrosis with normal sweat glands
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Isolated generalized anhidrosis with normal sweat glands
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Isolated generalized anhidrosis with normal sweat glands
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Isolated generalized anhidrosis with normal sweat glands
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Isolated generalized anhidrosis with normal sweat glands
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Isolated generalized anhidrosis with normal sweat glands
\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 sweat gland (disorder)\Disorder of eccrine sweat glands (disorder)\Isolated generalized anhidrosis with normal sweat glands
\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 sweat gland (disorder)\Anhidrosis\Isolated generalized anhidrosis with normal sweat glands
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of sweat gland (disorder)\Disorder of eccrine sweat glands (disorder)\Isolated generalized anhidrosis with normal sweat glands
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of sweat gland (disorder)\Anhidrosis\Isolated generalized anhidrosis with normal sweat glands

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4670273012 Isolated generalized anhidrosis with normal sweat glands en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4670274018 Isolated generalised anhidrosis with normal sweat glands en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4670275017 Isolated generalized anhidrosis with normal sweat glands (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5399582019 A rare genetic skin disease characterized by congenital generalized anhidrosis resulting in severe heat intolerance, due to functionally impaired eccrine sweat production. Skin biopsy reveals normal morphology and number of sweat glands. Dental, hair, nail, or other skin or extracutaneous anomalies are absent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5399583012 A rare genetic skin disease characterised by congenital generalised anhidrosis resulting in severe heat intolerance, due to functionally impaired eccrine sweat production. Skin biopsy reveals normal morphology and number of sweat glands. Dental, hair, nail, or other skin or extracutaneous anomalies are absent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Isolated generalized anhidrosis with normal sweat glands	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Isolated generalized anhidrosis with normal sweat glands	Is a	Anhidrosis	true	Inferred relationship	Some
Isolated generalized anhidrosis with normal sweat glands	Is a	Disorder of eccrine sweat glands (disorder)	true	Inferred relationship	Some
Isolated generalized anhidrosis with normal sweat glands	Is a	Congenital disease (disorder)	true	Inferred relationship	Some
Isolated generalized anhidrosis with normal sweat glands	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Isolated generalized anhidrosis with normal sweat glands	Interprets	Sweating, function (observable entity)	true	Inferred relationship	Some	2
Isolated generalized anhidrosis with normal sweat glands	Has interpretation	Absent	true	Inferred relationship	Some	2
Isolated generalized anhidrosis with normal sweat glands	Occurrence	Congenital	true	Inferred relationship	Some	1
Isolated generalized anhidrosis with normal sweat glands	Finding site	Eccrine gland structure	true	Inferred relationship	Some	1
Isolated generalized anhidrosis with normal sweat glands	Is a	Disorder involving the integument of fetus OR newborn	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4670273012	Isolated generalized anhidrosis with normal sweat glands	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4670274018	Isolated generalised anhidrosis with normal sweat glands	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4670275017	Isolated generalized anhidrosis with normal sweat glands (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399582019	A rare genetic skin disease characterized by congenital generalized anhidrosis resulting in severe heat intolerance, due to functionally impaired eccrine sweat production. Skin biopsy reveals normal morphology and number of sweat glands. Dental, hair, nail, or other skin or extracutaneous anomalies are absent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399583012	A rare genetic skin disease characterised by congenital generalised anhidrosis resulting in severe heat intolerance, due to functionally impaired eccrine sweat production. Skin biopsy reveals normal morphology and number of sweat glands. Dental, hair, nail, or other skin or extracutaneous anomalies are absent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core