8654005: Ectodermal dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia

\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia

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

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jul 2015. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

15274010 Ectodermal dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module
15275011 Ectodermal dysplasia, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
828826010 Ectodermal dysplasia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ectodermal dysplasia	Is a	Genodermatosis	true	Inferred relationship	Existential restriction modifier
Ectodermal dysplasia	Is a	Skin lesion	false	Inferred relationship	Existential restriction modifier
Ectodermal dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Ectodermal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Ectodermal dysplasia	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Ectodermal dysplasia	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier
Ectodermal dysplasia	Is a	Congenital malformation	false	Inferred relationship	Existential restriction modifier
Ectodermal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Ectodermal dysplasia	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Ectodermal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Ectodermal dysplasia	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	2
Ectodermal dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Ectodermal dysplasia	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Ectodermal dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Ectodermal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Ectodermal dysplasia	Is a	Congenital ectodermal defect	true	Inferred relationship	Existential restriction modifier
Ectodermal dysplasia	Finding site	Ectoderm structure	false	Inferred relationship	Existential restriction modifier	3
Ectodermal dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Ectodermal dysplasia	Finding site	Ectoderm structure	true	Inferred relationship	Existential restriction modifier	1
Ectodermal dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Ectodermal dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Ectodermal dysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ectodermal dysplasia with hair-tooth-nail-sweating defect	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Ectodermal dysplasia with hair-tooth-nail defects	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Ectodermal dysplasia with hair-tooth defects	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Ectodermal dysplasia with hair-nail defect	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Kirman syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Ectodermal dysplasia with tooth-nail defects	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Ectodermal dysplasia with tooth-sweating defect	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Ectodermal dysplasia with nail defect	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Ectodermal dysplasia with sweating defect	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Congenital ectodermal dysplasia of face	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Senter syndrome	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Ectodermal dysplasia-ocular malformation syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Pachyonychia congenita syndrome	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Hereditary benign intraepithelial dyskeratosis	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Xeroderma, talipes and enamel defect syndrome	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Pachydermoperiostosis syndrome	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Ectodermal dysplasia with tooth-nail-sweating defect	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Hereditary benign intraepithelial dyskeratosis	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Cerebellar ataxia co-occurrent with ectodermal dysplasia	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Ameloonychohypohidrotic syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Ectodermal dysplasia with natal teeth Turnpenny type	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Cleft lip and cleft palate with ectodermal dysplasia syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Sparse hair with short stature and skin anomaly syndrome	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Ectodermal dysplasia with acanthosis nigricans syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Autosomal dominant palmoplantar keratoderma and congenital alopecia	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Trichodysplasia with amelogenesis imperfecta syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Choroidal atrophy and alopecia syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Alopecia, contracture, dwarfism, intellectual disability syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Lymphedema hypoparathyroidism syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Blepharocheilodontic syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Scalp, ear, nipple syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Limb mammary syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Johnson neuroectodermal syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Autosomal recessive popliteal pterygium syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Ackerman syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Hypotrichosis with juvenile macular degeneration syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Trichothiodystrophy	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Ectodermal dysplasia and sensorineural deafness syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Oral-facial-digital syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Hypertrichosis cubiti	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Skin fragility, wooly hair, palmoplantar keratoderma syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Papillon-Lefèvre syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Dyskeratosis congenita	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Focal facial dermal dysplasia	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Keratitis ichthyosis and deafness syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Barber-Say syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier
Odonto-tricho-ungual-digito-palmar syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
15274010	Ectodermal dysplasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
15275011	Ectodermal dysplasia, NOS	en	Synonym	Inactive	Only initial character case insensitive	SNOMED CT core module
828826010	Ectodermal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module