8654005: Ectodermal dysplasia (disorder)

SNOMED CT Concept\constatation clinique\...

\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia

\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia

\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia

\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia
\Disease\affection d'un système corporel\troubles tégumentaires\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\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia
\Disease\trouble du développement\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia

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

Descriptions:

Id Description Lang Type Status Case? Module

15274010 Ectodermal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

828826010 Ectodermal dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ectodermal dysplasia	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Ectodermal dysplasia	localisation d'une constatation (attribut)	Ectoderm structure	true	Inferred relationship	Some	1
Ectodermal dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ectodermal dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Ectodermal dysplasia	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	2
Ectodermal dysplasia	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some
Ectodermal dysplasia	est un(e) (attribut)	Congenital malformation	false	Inferred relationship	Some
Ectodermal dysplasia	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Ectodermal dysplasia	est un(e) (attribut)	Genodermatosis	true	Inferred relationship	Some
Ectodermal dysplasia	est un(e) (attribut)	Skin lesion	false	Inferred relationship	Some
Ectodermal dysplasia	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Ectodermal dysplasia	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Ectodermal dysplasia	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	2
Ectodermal dysplasia	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Ectodermal dysplasia	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	2
Ectodermal dysplasia	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Ectodermal dysplasia	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	3
Ectodermal dysplasia	est un(e) (attribut)	Congenital ectodermal defect	true	Inferred relationship	Some
Ectodermal dysplasia	localisation d'une constatation (attribut)	Ectoderm structure	false	Inferred relationship	Some	3
Ectodermal dysplasia	survenue (attribut)	congénital	false	Inferred relationship	Some
Ectodermal dysplasia	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Ectodermal dysplasia	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1

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

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
15274010	Ectodermal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
828826010	Ectodermal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core