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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
Entire ectoderm Is a True Ectoderm structure Inferred relationship Some
Neural tube structure Is a True Ectoderm structure Inferred relationship Some
Oculodento-osseous dysplasia - severe type Finding site False Ectoderm structure Inferred relationship Some 2
Robinson nail dystrophy-deafness syndrome Finding site False Ectoderm structure Inferred relationship Some 5
Ectodermal dysplasia with tooth-nail-sweating defect (disorder) Finding site False Ectoderm structure Inferred relationship Some 3
syndrome dento-oculocutané Finding site False Ectoderm structure Inferred relationship Some 3
Berlin syndrome Finding site False Ectoderm structure Inferred relationship Some 3
Mohr syndrome Finding site False Ectoderm structure Inferred relationship Some 1
Anonychia with bizarre flexural pigmentation Finding site False Ectoderm structure Inferred relationship Some 5
Basan syndrome Finding site False Ectoderm structure Inferred relationship Some 3
Johanson-Blizzard syndrome Finding site False Ectoderm structure Inferred relationship Some 3
Odontotrichomelic syndrome (disorder) Finding site False Ectoderm structure Inferred relationship Some 4
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections Finding site False Ectoderm structure Inferred relationship Some 5
Ectodermal dysplasia with nail defect Finding site True Ectoderm structure Inferred relationship Some 3
Kirman syndrome Finding site False Ectoderm structure Inferred relationship Some 3
Ectodermal dysplasia with sweating defect (disorder) Finding site False Ectoderm structure Inferred relationship Some 3
Roselli-Gulienetti ectodermal dysplasia (disorder) Finding site False Ectoderm structure Inferred relationship Some 3
Pachyonychia congenita syndrome Finding site False Ectoderm structure Inferred relationship Some 4
Ectodermal dysplasia with tooth-nail defects Finding site False Ectoderm structure Inferred relationship Some 3
Flynn-Aird syndrome Finding site False Ectoderm structure Inferred relationship Some 3
Ectodermal dysplasia with tooth-sweating defect Finding site False Ectoderm structure Inferred relationship Some 3
Laryngo-onychocutaneous syndrome Finding site False Ectoderm structure Inferred relationship Some 4
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Finding site True Ectoderm structure Inferred relationship Some 1
Cranioectodermal dysplasia Finding site False Ectoderm structure Inferred relationship Some 4
Greither type of ectodermal dysplasia Finding site False Ectoderm structure Inferred relationship Some 3
Ectodermal dysplasia with hair-tooth-nail defects (disorder) Finding site False Ectoderm structure Inferred relationship Some 3
Hay-Wells syndrome of ectodermal dysplasia Finding site False Ectoderm structure Inferred relationship Some 2
Fried's tooth and nail syndrome Finding site False Ectoderm structure Inferred relationship Some 3
Pachyonychia congenita type III of Schafer-Brunauer (disorder) Finding site False Ectoderm structure Inferred relationship Some 4
Hallermann-Streiff syndrome Finding site False Ectoderm structure Inferred relationship Some 4
Congenital ectodermal defect Finding site True Ectoderm structure Inferred relationship Some 1
Senter syndrome Finding site False Ectoderm structure Inferred relationship Some 3
Ectodermal dysplasia, syndactyly and pili torti Finding site False Ectoderm structure Inferred relationship Some 3
Curly hair, ankyloblepharon, nail dysplasia syndrome (disorder) Finding site True Ectoderm structure Inferred relationship Some 3
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Finding site False Ectoderm structure Inferred relationship Some 3
Orofacial-digital syndrome IV Finding site False Ectoderm structure Inferred relationship Some 1
Trichodental syndrome Finding site False Ectoderm structure Inferred relationship Some 3
Dwarfism, alopecia, pseudoanodontia, cutis laxa Finding site False Ectoderm structure Inferred relationship Some 3
Ectodermal dysplasia Finding site False Ectoderm structure Inferred relationship Some 3
Marshall syndrome Finding site False Ectoderm structure Inferred relationship Some 4
syndrome de Moynahan Finding site False Ectoderm structure Inferred relationship Some 4
Odonto-onychial dysplasia with alopecia Finding site False Ectoderm structure Inferred relationship Some 5
Curry-Hall syndrome Finding site False Ectoderm structure Inferred relationship Some 3
dysplasie dermodentaire Finding site False Ectoderm structure Inferred relationship Some 3
Odontomicronychial ectodermal dysplasia (disorder) Finding site False Ectoderm structure Inferred relationship Some 3
Triphalangeal thumbs with onychodystrophy Finding site False Ectoderm structure Inferred relationship Some 4
Ectodermal dysplasia with hair-tooth-nail-sweating defect Finding site False Ectoderm structure Inferred relationship Some 3
Tricho-dento-osseous syndrome Finding site False Ectoderm structure Inferred relationship Some 3
Odonto-onycho-dermal dysplasia (disorder) Finding site False Ectoderm structure Inferred relationship Some 3
Hidrotic ectodermal dysplasia syndrome Finding site False Ectoderm structure Inferred relationship Some 3
Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) Finding site False Ectoderm structure Inferred relationship Some 3
Hypohidrosis with neurolabyrinthitis Finding site False Ectoderm structure Inferred relationship Some 4
Salamon's syndrome Finding site False Ectoderm structure Inferred relationship Some 3
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 1
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Finding site False Ectoderm structure Inferred relationship Some 3
Oral-facial-digital syndrome Finding site False Ectoderm structure Inferred relationship Some 1
Ectodermal dysplasia with hair-tooth defects Finding site False Ectoderm structure Inferred relationship Some 3
Pachyonychia congenita type II of Jackson-Lawler (disorder) Finding site False Ectoderm structure Inferred relationship Some 4
Hypodontia and nail dysgenesis Finding site False Ectoderm structure Inferred relationship Some 7
Hypohidrotic X-linked ectodermal dysplasia Finding site False Ectoderm structure Inferred relationship Some 3
Orofacial-digital syndrome III Finding site False Ectoderm structure Inferred relationship Some 1
Schinzel-Giedion syndrome Finding site False Ectoderm structure Inferred relationship Some 3
Chondroectodermal dysplasia Finding site False Ectoderm structure Inferred relationship Some 4
Hypohidrosis-diabetes insipidus syndrome Finding site False Ectoderm structure Inferred relationship Some 4
Ectodermal dysplasia with hair-nail defect Finding site True Ectoderm structure Inferred relationship Some 3
Ectodermal dysplasia-ocular malformation syndrome Finding site False Ectoderm structure Inferred relationship Some 3
Sandman-Andra syndrome Finding site False Ectoderm structure Inferred relationship Some 3
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Finding site False Ectoderm structure Inferred relationship Some 3
Tricho-oculodermovertebral syndrome Finding site True Ectoderm structure Inferred relationship Some 3
Oculodentodigital syndrome Finding site False Ectoderm structure Inferred relationship Some 2
Oculodento-osseous dysplasia - mild type (disorder) Finding site False Ectoderm structure Inferred relationship Some 2
syndrome de Schoef-Schulz-Passage Finding site False Ectoderm structure Inferred relationship Some 3
Tricho-onychodental dysplasia Finding site False Ectoderm structure Inferred relationship Some 3
Ectrodactyly-ectodermal dysplasia-clefting syndrome Finding site False Ectoderm structure Inferred relationship Some 5
Curly hair, ankyloblepharon, nail dysplasia syndrome (disorder) Finding site False Ectoderm structure Inferred relationship Some 4
Ectodermal dysplasia with hair-nail defect Finding site False Ectoderm structure Inferred relationship Some 4
Tricho-oculodermovertebral syndrome Finding site False Ectoderm structure Inferred relationship Some 4
Congenital ectodermal dysplasia of face Finding site False Ectoderm structure Inferred relationship Some 3
Congenital ectodermal dysplasia of face Finding site False Ectoderm structure Inferred relationship Some 2
Mohr syndrome Finding site True Ectoderm structure Inferred relationship Some 5
Odontotrichomelic syndrome (disorder) Finding site True Ectoderm structure Inferred relationship Some 3
Orofacial-digital syndrome III Finding site True Ectoderm structure Inferred relationship Some 5
Orofacial-digital syndrome IV Finding site True Ectoderm structure Inferred relationship Some 5
Oral-facial-digital syndrome Finding site True Ectoderm structure Inferred relationship Some 4
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 False Ectoderm structure Inferred relationship Some 3
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. 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 False Ectoderm structure Inferred relationship Some 5
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. Finding site True Ectoderm structure Inferred relationship Some 2
Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment). Finding site True Ectoderm structure Inferred relationship Some 6
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 True Ectoderm structure Inferred relationship Some 8
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 False Ectoderm structure Inferred relationship Some 6
Sparse hair with short stature and skin anomaly syndrome Finding site False Ectoderm structure Inferred relationship Some 5
Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. Finding site True Ectoderm structure Inferred relationship Some 3
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. 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 False Ectoderm structure Inferred relationship Some 5
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 4
This syndrome has characteristics of congenital absence of the teeth and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families. Finding site False Ectoderm structure Inferred relationship Some 4
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 False Ectoderm structure Inferred relationship Some 2
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 False Ectoderm structure Inferred relationship Some 5
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 False Ectoderm structure Inferred relationship Some 4
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 False Ectoderm structure Inferred relationship Some 7

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Reference Sets

Anatomy structure and entire association reference set (foundation metadata concept)

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