239048008: Ectodermal dysplasia with sweating defect (disorder)

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

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

\Finding of sweating\Ectodermal dysplasia with sweating defect (disorder)

\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect (disorder)

\General finding of soft tissue\Skin finding\Finding of sweating\Ectodermal dysplasia with sweating defect (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect (disorder)
\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\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect (disorder)

\Functional finding\Finding of sweating\Ectodermal dysplasia with sweating defect (disorder)

\Integumentary system finding\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect (disorder)
\Integumentary system finding\Skin finding\Finding of sweating\Ectodermal dysplasia with sweating defect (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect (disorder)

\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect (disorder)
\Disease\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect (disorder)
\Disease\Disorder of body system\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect (disorder)
\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\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

358236019 Ectodermal dysplasia with sweating defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

628012015 Ectodermal dysplasia with sweating defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5026931000241115 dysplasie ectodermique avec déficit de sudation 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
Ectodermal dysplasia with sweating defect (disorder)	Is a	Ectodermal dysplasia	true	Inferred relationship	Some
Ectodermal dysplasia with sweating defect (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Ectodermal dysplasia with sweating defect (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Ectodermal dysplasia with sweating defect (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Ectodermal dysplasia with sweating defect (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
Ectodermal dysplasia with sweating defect (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Ectodermal dysplasia with sweating defect (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Ectodermal dysplasia with sweating defect (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Ectodermal dysplasia with sweating defect (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	2
Ectodermal dysplasia with sweating defect (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Ectodermal dysplasia with sweating defect (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Ectodermal dysplasia with sweating defect (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Ectodermal dysplasia with sweating defect (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Ectodermal dysplasia with sweating defect (disorder)	Finding site	Ectoderm structure	false	Inferred relationship	Some	3
Ectodermal dysplasia with sweating defect (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ectodermal dysplasia with sweating defect (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Ectodermal dysplasia with sweating defect (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Ectodermal dysplasia with sweating defect (disorder)	Finding site	Ectoderm structure	true	Inferred relationship	Some	1
Ectodermal dysplasia with sweating defect (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Ectodermal dysplasia with sweating defect (disorder)	Is a	Finding of sweating	true	Inferred relationship	Some
Ectodermal dysplasia with sweating defect (disorder)	Interprets	Sweating, function (observable entity)	true	Inferred relationship	Some	3
Ectodermal dysplasia with sweating defect (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hypohidrosis with neurolabyrinthitis	Is a	True	Ectodermal dysplasia with sweating defect (disorder)	Inferred relationship	Some
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.	Is a	True	Ectodermal dysplasia with sweating defect (disorder)	Inferred relationship	Some
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections	Is a	True	Ectodermal dysplasia with sweating defect (disorder)	Inferred relationship	Some
A rare autosomal dominant ectodermal dysplasia syndrome characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features may include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.	Is a	False	Ectodermal dysplasia with sweating defect (disorder)	Inferred relationship	Some
Ectodermal dysplasia with tooth-sweating defect	Is a	True	Ectodermal dysplasia with sweating defect (disorder)	Inferred relationship	Some
Ectodermal syndrome with hair-sweating defects (disorder)	Is a	True	Ectodermal dysplasia with sweating defect (disorder)	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
358236019	Ectodermal dysplasia with sweating defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
628012015	Ectodermal dysplasia with sweating defect (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5026931000241115	dysplasie ectodermique avec déficit de sudation	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module