8654005: Ectodermal dysplasia (disorder)

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

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

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\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 (disorder)\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 (disorder)\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 (disorder)\Genodermatosis\Ectodermal dysplasia
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\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 (disorder)\Genodermatosis\Ectodermal dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\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 (disorder)\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 (disorder)\Genodermatosis\Ectodermal dysplasia
\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
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\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	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia	Is a	Skin lesion	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia	Is a	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ectodermal dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ectodermal dysplasia	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ectodermal dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ectodermal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ectodermal dysplasia	Is a	Congenital ectodermal defect	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia	Finding site	Ectoderm structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ectodermal dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia	Finding site	Ectoderm structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ectodermal dysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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 (core metadata concept)
Ectodermal dysplasia with hair-tooth-nail defects	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with hair-tooth defects	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with hair-nail defect	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Kirman syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with tooth-nail defects	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with tooth-sweating defect	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with nail defect	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with sweating defect	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ectodermal dysplasia of face	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Senter syndrome	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia-ocular malformation syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Pachyonychia congenita syndrome	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary benign intraepithelial dyskeratosis	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
XTE syndrome	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Pachydermoperiostosis syndrome (disorder)	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with tooth-nail-sweating defect	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary benign intraepithelial dyskeratosis (disorder)	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Ameloonychohypohidrotic syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with natal teeth Turnpenny type (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Zlotogora Ogur syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Sparse hair with short stature and skin anomaly syndrome	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Lelis syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.	Is a	False	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Trichodysplasia with amelogenesis imperfecta syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
CHIME syndrome is a rare ectodermal dysplasia syndrome characterised by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Choroidal atrophy and alopecia syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis, and nail abnormalities. There have been no further descriptions in the literature since 1993.	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Blepharocheilodontic syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported.	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Limb mammary syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Johnson neuroectodermal syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive popliteal pterygium syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Ackerman syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Trichothiodystrophy (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia and sensorineural deafness syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterised by severe generalised lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Oral-facial-digital syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypertrichosis cubiti (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Papillon-Lefèvre syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Dyskeratosis congenita	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Focal facial dermal dysplasia (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Keratitis ichthyosis and deafness syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Barber-Say syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)
Odonto-tricho-ungual-digito-palmar syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)

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
828826010	Ectodermal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
15274010	Ectodermal dysplasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	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
3410481001000114	Ektodermale Dysplasie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4417531000241115	dysplasie ectodermique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4417531000241115	dysplasie ectodermique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3410481001000114	Ektodermale Dysplasie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module