8654005: ectodermale dysplasie (aandoening)

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

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

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

\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia
\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
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia

\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Ectodermal dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia
\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
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\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 (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ectodermal dysplasia	Is a	Genodermatosis	true	Inferred relationship	Some
Ectodermal dysplasia	Is a	Skin lesion	false	Inferred relationship	Some
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
Ectodermal dysplasia	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
Ectodermal dysplasia	Is a	Congenital malformation	false	Inferred relationship	Some
Ectodermal dysplasia	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Ectodermal dysplasia	Finding site	Skin structure	false	Inferred relationship	Some	1
Ectodermal dysplasia	Associated morphology	congenitale dysplasie (afwijkende morfologie)	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	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Ectodermal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	3
Ectodermal dysplasia	Associated morphology	congenitale dysplasie (afwijkende morfologie)	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	true	Inferred relationship	Some	1
Ectodermal dysplasia	Finding site	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	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Ectodermal dysplasia	Is a	Congenital dysplasia (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections	Is a	False	Ectodermal dysplasia	Inferred relationship	Some
congenitale ectodermale dysplasie van aangezicht	Is a	False	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
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 tooth-nail-sweating defect (disorder)	Is a	False	Ectodermal dysplasia	Inferred relationship	Some
Hereditary benign intraepithelial dyskeratosis (disorder)	Is a	False	Ectodermal dysplasia	Inferred relationship	Some
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Ameloonychohypohidrotic syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Ectodermal dysplasia with natal teeth Turnpenny type (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)	Is a	False	Ectodermal dysplasia	Inferred relationship	Some
syndroom van dun haar met kleine gestalte en huidanomalie (aandoening)	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 (disorder)	Is a	False	Ectodermal dysplasia	Inferred relationship	Some
Trichodysplasia with amelogenesis imperfecta syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Choroidal atrophy and alopecia syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Lymphedema hypoparathyroidism syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Blepharocheilodontic syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Scalp, ear, nipple syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Limb mammary syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Johnson neuroectodermal syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Autosomal recessive popliteal pterygium syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Ackerman syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Hypotrichosis with juvenile macular degeneration syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Trichothiodystrophy (disorder)	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 (disorder)	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 (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder)	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 (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Keratitis ichthyosis and deafness syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Barber-Say syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Odonto-tricho-ungual-digito-palmar syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Some

This concept is not in any reference sets

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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
15275011	Ectodermal dysplasia, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character 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
31251000146110	ectodermale dysplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
923761000146111	ectodermale dysplasie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
11004931000146119	Groep erfelijke aandoeningen waarbij er iets mis is met de huid, nagels, tanden, haren en/of zweetklieren; de meest voorkomende vorm van ectodermale dysplasie is anhidrotische ectodermale dysplasie.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)