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8654005: Ectodermal dysplasia (disorder)

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
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

159 descendants. Search Descendants:

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 anomalie congénitale false Inferred relationship Some
Ectodermal dysplasia Is a Congenital malformation false Inferred relationship Some
Ectodermal dysplasia Associated morphology Congenital dysplasia false Inferred relationship Some 1
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 anomalie du développement 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 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 Is a False Ectodermal dysplasia Inferred relationship Some
Ectodermal dysplasia with hair-tooth-nail defects (disorder) 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 (disorder) 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
Congenital ectodermal dysplasia of face 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
Xeroderma, talipes and enamel defect syndrome (disorder) Is a False Ectodermal dysplasia Inferred relationship Some
Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy, a rare hereditary disorder, and is characterised by 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 fruste with prominent pachydermia and minimal-to-absent skeletal changes. 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
Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrichosis localized 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 characterized by 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. 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, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described. FFDD 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. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies. Is a True Ectodermal dysplasia Inferred relationship Some
A rare congenital ectodermal disorder characterised by vascularising keratitis, hyperkeratotic skin lesions and hearing loss. 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

This concept is not in any reference sets

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