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63206006: Ectoderm structure (body structure)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
105066011 Ectoderm en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
499504012 Ectoderm structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
802464016 Ectoderm structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

15 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ectoderm structure Is a Histogenic layer true Inferred relationship Some
Ectoderm structure partie de Entire embryo false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Senter syndrome Finding site True Ectoderm structure Inferred relationship Some 1
Ectrodactyly-ectodermal dysplasia-clefting syndrome Finding site True Ectoderm structure Inferred relationship Some 2
Ectodermal dysplasia-ocular malformation syndrome Finding site True Ectoderm structure Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by short stature and particularly pronounced shortening of the third to fifth metacarpals and metatarsals, congenital anodontia, sparse hair, dyspigmentation of the skin, hypoplastic nipples and underdeveloped external genitals in females, and multiple ocular abnormalities (such as distichiasis, strabismus, nystagmus, lenticular opacities, and severe myopia, among others). Dysmorphic craniofacial features include brachycephaly, downslanting palpebral fissures, broad nasal root, low-set ears, and small maxilla and prominent mandible. There have been no further descriptions in the literature since 1968. Finding site True Ectoderm structure Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. Finding site True Ectoderm structure Inferred relationship Some 1
Hay-Wells syndrome of ectodermal dysplasia Finding site True Ectoderm structure Inferred relationship Some 3
Ectodermal dysplasia with hair-tooth defects Finding site True Ectoderm structure Inferred relationship Some 1
Odontomicronychial ectodermal dysplasia (disorder) Finding site True Ectoderm structure Inferred relationship Some 1
Ectodermal dysplasia Finding site True Ectoderm structure Inferred relationship Some 1
Ectodermal dysplasia with tooth-nail-sweating defect (disorder) Finding site True Ectoderm structure Inferred relationship Some 1
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. Finding site True Ectoderm structure Inferred relationship Some 3
Robinson nail dystrophy-deafness syndrome Finding site True Ectoderm structure Inferred relationship Some 3
Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner. Finding site True Ectoderm structure Inferred relationship Some 1
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. Finding site True Ectoderm structure Inferred relationship Some 2
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. Finding site True Ectoderm structure Inferred relationship Some 1
A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported. Finding site True Ectoderm structure Inferred relationship Some 3
Ectodermal dysplasia with hair-tooth-nail-sweating defect Finding site True Ectoderm structure Inferred relationship Some 1
Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients. Finding site True Ectoderm structure Inferred relationship Some 1
A rare autosomal dominant ectodermal dysplasia syndrome characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features may include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics. Finding site True Ectoderm structure Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. Finding site True Ectoderm structure Inferred relationship Some 3
Ectodermal dysplasia with tooth-nail defects Finding site True Ectoderm structure Inferred relationship Some 1
syndrome dento-oculocutané Finding site False Ectoderm structure Inferred relationship Some 1
Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) Finding site True Ectoderm structure Inferred relationship Some 1
Ectodermal dysplasia with tooth-sweating defect Finding site True Ectoderm structure Inferred relationship Some 1
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Finding site True Ectoderm structure Inferred relationship Some 2
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. Finding site True Ectoderm structure Inferred relationship Some 1
Trichodental syndrome Finding site True Ectoderm structure Inferred relationship Some 1
Anonychia with bizarre flexural pigmentation Finding site True Ectoderm structure Inferred relationship Some 1
dysplasie dermodentaire Finding site False Ectoderm structure Inferred relationship Some 1
Tricho-onychodental dysplasia Finding site True Ectoderm structure Inferred relationship Some 1
Triphalangeal thumbs with onychodystrophy Finding site False Ectoderm structure Inferred relationship Some 1
Salamon's syndrome Finding site True Ectoderm structure Inferred relationship Some 1
Flynn-Aird syndrome Finding site True Ectoderm structure Inferred relationship Some 1
Hypohidrotic X-linked ectodermal dysplasia Finding site True Ectoderm structure Inferred relationship Some 1
Ectodermal dysplasia, syndactyly and pili torti Finding site True Ectoderm structure Inferred relationship Some 1
Johanson-Blizzard syndrome Finding site True Ectoderm structure Inferred relationship Some 1
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. Finding site True Ectoderm structure Inferred relationship Some 1
Congenital ectodermal dysplasia of face Finding site False Ectoderm structure Inferred relationship Some 1
Odonto-onychial dysplasia with alopecia Finding site True Ectoderm structure Inferred relationship Some 3
Schinzel-Giedion syndrome Finding site True Ectoderm structure Inferred relationship Some 1
Fried's tooth and nail syndrome Finding site True Ectoderm structure Inferred relationship Some 1
Hypohidrosis-diabetes insipidus syndrome Finding site True Ectoderm structure Inferred relationship Some 2
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Finding site True Ectoderm structure Inferred relationship Some 2
Odonto-onycho-dermal dysplasia (disorder) Finding site True Ectoderm structure Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. Finding site False Ectoderm structure Inferred relationship Some 3
Dwarfism, alopecia, pseudoanodontia, cutis laxa Finding site True Ectoderm structure Inferred relationship Some 1
syndrome de Moynahan Finding site False Ectoderm structure Inferred relationship Some 2
Hallermann-Streiff syndrome Finding site True Ectoderm structure Inferred relationship Some 2
A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988. Finding site True Ectoderm structure Inferred relationship Some 2
Roselli-Gulienetti ectodermal dysplasia (disorder) Finding site True Ectoderm structure Inferred relationship Some 1
Berlin syndrome Finding site True Ectoderm structure Inferred relationship Some 1
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. Finding site True Ectoderm structure Inferred relationship Some 1
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. Finding site True Ectoderm structure Inferred relationship Some 2
Tricho-dento-osseous syndrome Finding site True Ectoderm structure Inferred relationship Some 1
syndrome de Schoef-Schulz-Passage Finding site False Ectoderm structure Inferred relationship Some 1
Hidrotic ectodermal dysplasia syndrome Finding site True Ectoderm structure Inferred relationship Some 2
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. Finding site True Ectoderm structure Inferred relationship Some 1
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Finding site True Ectoderm structure Inferred relationship Some 1
Basan syndrome Finding site True Ectoderm structure Inferred relationship Some 1
Hypodontia and nail dysgenesis Finding site True Ectoderm structure Inferred relationship Some 3
Greither type of ectodermal dysplasia Finding site True Ectoderm structure Inferred relationship Some 1
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. Finding site False Ectoderm structure Inferred relationship Some 2
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. Finding site True Ectoderm structure Inferred relationship Some 3
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. Finding site True Ectoderm structure Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992. Finding site True Ectoderm structure Inferred relationship Some 2
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. Finding site True Ectoderm structure Inferred relationship Some 1
Sparse hair with short stature and skin anomaly syndrome Finding site False Ectoderm structure Inferred relationship Some 2
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Finding site True Ectoderm structure Inferred relationship Some 1
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. Finding site True Ectoderm structure Inferred relationship Some 2
A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. Finding site True Ectoderm structure Inferred relationship Some 2
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. Finding site True Ectoderm structure Inferred relationship Some 1
Marshall syndrome Finding site True Ectoderm structure Inferred relationship Some 1
A genetically heterogeneous autosomal recessive syndrome characterised by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. Finding site False Ectoderm structure Inferred relationship Some 2
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. Finding site True Ectoderm structure Inferred relationship Some 3
Neuroectodermal endocrine syndrome Finding site False Ectoderm structure Inferred relationship Some 1
Pachyonychia congenita type III of Schafer-Brunauer (disorder) Finding site False Ectoderm structure Inferred relationship Some 1
A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984. Finding site True Ectoderm structure Inferred relationship Some 1
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. Finding site True Ectoderm structure Inferred relationship Some 2
Pachyonychia congenita type II of Jackson-Lawler (disorder) Finding site False Ectoderm structure Inferred relationship Some 1
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Finding site True Ectoderm structure Inferred relationship Some 3
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. Finding site False Ectoderm structure Inferred relationship Some 6
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. Finding site True Ectoderm structure Inferred relationship Some 1
Sandman-Andra syndrome Finding site True Ectoderm structure Inferred relationship Some 1
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. Finding site True Ectoderm structure Inferred relationship Some 2
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. Finding site True Ectoderm structure Inferred relationship Some 4
Cranioectodermal dysplasia Finding site False Ectoderm structure Inferred relationship Some 1
Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies. Finding site True Ectoderm structure Inferred relationship Some 2
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. Finding site True Ectoderm structure Inferred relationship Some 2
A rare, genetic, ectodermal dysplasia syndrome characterized by skin, hair and nail anomalies (i.e. generalized ichthyosis, congenital alopecia universalis, dystrophic, convex nails), associated with hypohidrosis without hyperthermia, intellectual disability, seizures, and skeletal (e.g. proportionate short stature, platyspondyly) and intestinal (e.g. congenital aganglionic megacolon) anomalies. Facial dysmorphism includes frontal bossing, blepharophimosis, large ears, low nasal bridge and small nose. There have been no further descriptions in the literature since 1992. Finding site True Ectoderm structure Inferred relationship Some 1
Cranioectodermal dysplasia Finding site True Ectoderm structure Inferred relationship Some 2
A genetically heterogeneous autosomal recessive syndrome characterised by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. Finding site True Ectoderm structure Inferred relationship Some 4
A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992. Finding site True Ectoderm structure Inferred relationship Some 1
Papillon-Lefèvre syndrome Finding site True Ectoderm structure Inferred relationship Some 1
Ectodermal syndrome with hair-tooth-sweating defects (disorder) Finding site True Ectoderm structure Inferred relationship Some 1
Ectodermal syndrome with hair-sweating defects (disorder) Finding site True Ectoderm structure Inferred relationship Some 1
A rare X-linked syndromic intellectual disability considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia. Finding site True Ectoderm structure Inferred relationship Some 2
Autosomal recessive dyskeratosis congenita Finding site True Ectoderm structure Inferred relationship Some 2
Autosomal dominant dyskeratosis congenita (disorder) Finding site True Ectoderm structure Inferred relationship Some 2
X-linked dyskeratosis congenita (disorder) Finding site True Ectoderm structure Inferred relationship Some 2
Dyskeratosis congenita Finding site True Ectoderm structure Inferred relationship Some 2
Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. Finding site True Ectoderm structure Inferred relationship Some 11

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