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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 anomaly\Congenital ectodermal defect\Ectodermal dysplasia
\Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital ectodermal defect\Ectodermal dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia

Status: current, Defined. Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

15274010 Ectodermal dysplasia en Synonym Active Case insensitive SNOMED CT core
15275011 Ectodermal dysplasia, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
828826010 Ectodermal dysplasia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Papillon-Lefèvre syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Dyskeratosis congenita	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Focal facial dermal dysplasia	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Keratitis ichthyosis and deafness syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Barber-Say syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Odonto-tricho-ungual-digito-palmar syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Senter syndrome	Is a	False	Ectodermal dysplasia	Inferred relationship	Some
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Is a	False	Ectodermal dysplasia	Inferred relationship	Some
Ectodermal dysplasia-ocular malformation syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Pachyonychia congenita syndrome	Is a	False	Ectodermal dysplasia	Inferred relationship	Some
Ectodermal dysplasia with tooth-nail-sweating defect	Is a	False	Ectodermal dysplasia	Inferred relationship	Some
Hereditary benign intraepithelial dyskeratosis	Is a	False	Ectodermal dysplasia	Inferred relationship	Some
Hereditary benign intraepithelial dyskeratosis	Is a	False	Ectodermal dysplasia	Inferred relationship	Some
XTE syndrome	Is a	False	Ectodermal dysplasia	Inferred relationship	Some
Pachydermoperiostosis syndrome	Is a	False	Ectodermal dysplasia	Inferred relationship	Some
Ectodermal dysplasia with hair-tooth-nail-sweating defect	Is a	False	Ectodermal dysplasia	Inferred relationship	Some
Ectodermal dysplasia with hair-tooth-nail defects	Is a	False	Ectodermal dysplasia	Inferred relationship	Some
Ectodermal dysplasia with hair-tooth defects	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Ectodermal dysplasia with hair-nail defect	Is a	False	Ectodermal dysplasia	Inferred relationship	Some
Kirman syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Ectodermal dysplasia with tooth-nail defects	Is a	False	Ectodermal dysplasia	Inferred relationship	Some
Ectodermal dysplasia with tooth-sweating defect	Is a	False	Ectodermal dysplasia	Inferred relationship	Some
Ectodermal dysplasia with nail defect	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Ectodermal dysplasia with sweating defect	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Hypohidrotic ectodermal dysplasia, hypothyroidism, ciliary dyskinesia syndrome	Is a	False	Ectodermal dysplasia	Inferred relationship	Some
Congenital ectodermal dysplasia of face	Is a	False	Ectodermal dysplasia	Inferred relationship	Some
Cerebellar ataxia and ectodermal dysplasia	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Amelo-onycho-hypohidrotic syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Ectodermal dysplasia with natal teeth Turnpenny type	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Zlotogora Ogur syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome	Is a	False	Ectodermal dysplasia	Inferred relationship	Some
Sparse hair with short stature and skin anomaly syndrome	Is a	False	Ectodermal dysplasia	Inferred relationship	Some
Lelis syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Autosomal dominant palmoplantar keratoderma and congenital alopecia	Is a	False	Ectodermal dysplasia	Inferred relationship	Some
Trichodysplasia with amelogenesis imperfecta syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
CHIME syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Choroidal atrophy and alopecia syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
EEM syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Alopecia, contracture, dwarfism, intellectual disability syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Dahlberg Borer Newcomer syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Blepharocheilodontic syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Scalp, ear, nipple syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Limb mammary syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Johnson neuroectodermal syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Bartsocas Papas syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Ackerman syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Hypotrichosis with juvenile macular degeneration syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Trichothiodystrophy	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Ectodermal dysplasia and sensorineural deafness syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Oral-facial-digital syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Hypertrichosis cubiti	Is a	True	Ectodermal dysplasia	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

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