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

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

\Functional finding\Finding of sweating\Ectodermal dysplasia with sweating defect

\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect
\Integumentary system finding\Skin finding\Finding of sweating\Ectodermal dysplasia with sweating defect
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect

\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with sweating defect

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ectodermal dysplasia with sweating defect	Is a	Ectodermal dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with sweating defect	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with sweating defect	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with sweating defect	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with sweating defect	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with sweating defect	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with sweating defect	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with sweating defect	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with sweating defect	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ectodermal dysplasia with sweating defect	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ectodermal dysplasia with sweating defect	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ectodermal dysplasia with sweating defect	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ectodermal dysplasia with sweating defect	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ectodermal dysplasia with sweating defect	Finding site	Ectoderm structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ectodermal dysplasia with sweating defect	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with sweating defect	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ectodermal dysplasia with sweating defect	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with sweating defect	Finding site	Ectoderm structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with sweating defect	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ectodermal dysplasia with sweating defect	Is a	Finding of sweating	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with sweating defect	Interprets	Sweating, function (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ectodermal dysplasia with sweating defect	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hypohidrosis with neurolabyrinthitis (disorder)	Is a	True	Ectodermal dysplasia with sweating defect	Inferred relationship	Existential restriction modifier (core metadata concept)
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.	Is a	True	Ectodermal dysplasia with sweating defect	Inferred relationship	Existential restriction modifier (core metadata concept)
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections	Is a	True	Ectodermal dysplasia with sweating defect	Inferred relationship	Existential restriction modifier (core metadata concept)
Book syndrome (disorder)	Is a	False	Ectodermal dysplasia with sweating defect	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with tooth-sweating defect	Is a	True	Ectodermal dysplasia with sweating defect	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal syndrome with hair-sweating defects	Is a	True	Ectodermal dysplasia with sweating defect	Inferred relationship	Existential restriction modifier (core metadata concept)

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
358236019	Ectodermal dysplasia with sweating defect	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
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