8654005: Ectodermal dysplasia (disorder)

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

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

\General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\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 (disorder)\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 (disorder)\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 (disorder)\Ectodermal dysplasia
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\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 (disorder)\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\Genodermatosis (disorder)\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 (disorder)\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 (disorder)\Ectodermal dysplasia
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (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 (disorder)\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

2000811000005115 Ektodermal dysplasi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ectodermal dysplasia	Is a	Genodermatosis (disorder)	true	Inferred relationship	Some
Ectodermal dysplasia	Is a	Skin lesion (disorder)	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	kongenit anomali	false	Inferred relationship	Some
Ectodermal dysplasia	Is a	Congenital malformation	false	Inferred relationship	Some
Ectodermal dysplasia	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	1
Ectodermal dysplasia	Finding site	Skin structure	false	Inferred relationship	Some	1
Ectodermal dysplasia	Associated morphology	kongenit dysplasi	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	dysgenese	false	Inferred relationship	Some	2
Ectodermal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	3
Ectodermal dysplasia	Associated morphology	kongenit dysplasi	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	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ectodermal dysplasia with hair-tooth-nail-sweating defect (disorder)	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
Kongenit ektodermal dysplasi af ansigtet	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
A form of primary hypertrophic osteoarthropathy, a rare hereditary disorder with characteristics of digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhoea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes. The disease typically begins during childhood or adolescence and may stabilise after 5-20 years of progression, or progress constantly. Mutations in the HPGD gene (4q33-q34) have been identified. The gene encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH), the main enzyme of prostaglandin degradation. Inherited as an autosomal recessive trait.	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
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	Some
A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungual hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrimal punctum may be occasionally absent. There have been no further descriptions in the literature since 1975.	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
A rare ectodermal dysplasia syndrome characterized by neonatal teeth, hypo- or oligodontia of the secondary dentition, flexural acanthosis nigricans, and sparse body and scalp hair (the latter being thin and slow-growing). There have been no further descriptions in the literature since 1995.	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.	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 characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
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	Some
A rare ectodermal dysplasia syndrome characterized by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts. There have been no further descriptions in the literature since 1993.	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
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	Some
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
A rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet.	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
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	Some
A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth.	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
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	Some
A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present.	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by a variable combination of dental, cutaneous, ocular, and bone abnormalities, including pyramidal and fused molar roots, taurodontism, an abnormal upper lip without a cupid's bow and thickened and wide philtrum, juvenile glaucoma, syndactyly, and clinodactyly. There have been no further descriptions in the literature since 1973.	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
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	Some
A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized 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	Some
Oral-facial-digital syndrome	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
A rare hair anomaly characterised by symmetrical, congenital or early-onset, bilateral hypertrichosis localised on the extensor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
A rare genetic ectodermal dysplasia syndrome with characteristics of persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Caused by homozygous or compound heterozygous mutation in the desmoplakin gene on chromosome 6p24.	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 dysplasias (FFDD) are rare ectodermal dysplasias, with characteristics of congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. Four types of FFDD are described. Types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. Types I and IV are infrequently associated with extra-cutaneous anomalies.	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss. Patients usually present at birth with generalized erythema and ichthyosiform scaling. The skin manifestations are progressive with erythrokeratoderma characterized by well-demarcated erythematous and keratotic plaques with a verrucous appearance predominantly located on the face, scalp, ears, elbows and knees. Hearing loss is congenital, usually sensorineural and is often profound. Caused by mutations involving the N-terminus and first extracellular loop of the GJB2 gene (13q11-q12), encoding connexin-26. Most of the reported cases are sporadic, but familial cases with autosomal dominant inheritance have been reported.	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
Barber-Say syndrome (disorder)	Is a	True	Ectodermal dysplasia	Inferred relationship	Some
A rare ectodermal dysplasia syndrome characterized by neonatal teeth, trichodystrophy (with straw-like, discolored and fragile hair), onychodystrophy, and malformation of the hands and feet consisting of simian-like hands with transverse palmar creases and prominent interdigital folds, brachydactyly, and marked shortness of the first metacarpal and metatarsal bones with hypoplasia of the distal phalanges. There have been no further descriptions in the literature since 1997.	Is a	True	Ectodermal dysplasia	Inferred relationship	Some

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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
2000811000005115	Ektodermal dysplasi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)