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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
105066011 Ectoderm en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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 Structure of histogenic layer (body structure) true Inferred relationship Existential restriction modifier (core metadata concept)
Ectoderm structure partie de Entire embryo false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 7
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 6
CHIME syndrome is a rare ectodermal dysplasia syndrome characterised by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 8
Contracture with ectodermal dysplasia and orofacial cleft syndrome Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Choroidal atrophy and alopecia syndrome (disorder) Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 6
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 False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Dermo-odonto dysplasia (disorder) Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 2
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 False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 10
Dermatoosteolysis Kirghizian type (disorder) Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare genetic disease characterized by global developmental delay with language and cognition deficiencies, behavioral problems, osteopenia, joint laxity, skin defects consisting of hyperkeratosis and sweat gland and melanocyte abnormalities with hypopigmented areas, and abnormal hair structure. Mild facial dysmorphism (prominent forehead, thick eyebrows, epicanthal folds, broad nasal bridge, long philtrum, and micrognathia), abnormalities of the teeth, and skeletal and cardiac anomalies have also been described. Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Hidrotic ectodermal dysplasia Halal type (disorder) Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 6
A rare genetic disease characterized by global developmental delay with language and cognition deficiencies, behavioral problems, osteopenia, joint laxity, skin defects consisting of hyperkeratosis and sweat gland and melanocyte abnormalities with hypopigmented areas, and abnormal hair structure. Mild facial dysmorphism (prominent forehead, thick eyebrows, epicanthal folds, broad nasal bridge, long philtrum, and micrognathia), abnormalities of the teeth, and skeletal and cardiac anomalies have also been described. Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 3
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 False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 7
Dermatoosteolysis Kirghizian type (disorder) Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Limb mammary syndrome Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 6
DOORS syndrome Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 7
Joubert syndrome with orofaciodigital defect Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 7
Joubert syndrome with orofaciodigital defect Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Blepharocheilodontic syndrome (disorder) Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Johnson neuroectodermal syndrome (disorder) Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 2
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 False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Book syndrome (disorder) Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive popliteal pterygium syndrome Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Oculotrichodysplasia Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Oro-facial digital syndrome type 10 Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Oro-facial digital syndrome type 5 Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Oro-facial digital syndrome type 8 Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Oro-facial digital syndrome type 10 Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 7
Oro-facial digital syndrome type 5 Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 7
Oro-facial digital syndrome type 8 Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 7
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Ackerman syndrome (disorder) Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 3
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 False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 4
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 False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Pili torti onychodysplasia syndrome (disorder) Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 4
PIBIDS syndrome, photosensitivity with IBIDS Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 2
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Clastothrix Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 1
PIBIDS syndrome, photosensitivity with IBIDS Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 1
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Stern Lubinsky Durrie syndrome (disorder) Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Clastothrix Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Trichothiodystrophy (disorder) Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Neuroectodermal endocrine syndrome Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia and sensorineural deafness syndrome (disorder) Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Ectodermal dysplasia trichoodontoonychial type (disorder) Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia trichoodontoonychial type (disorder) Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Conductive deafness, ptosis, skeletal anomalies syndrome Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Oro-facial digital syndrome type 13 Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Oro-facial digital syndrome type 12 Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 7
Oro-facial digital syndrome type 14 (disorder) Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Oro-facial digital syndrome type 1 Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Chondroectodermal dysplasia (disorder) Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Trichodermodysplasia and dental alterations syndrome Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Odonto onycho dysplasia with alopecia syndrome (disorder) Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Conductive deafness, ptosis, skeletal anomalies syndrome Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Chondroectodermal dysplasia with night blindness syndrome (disorder) Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder) Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Oro-facial digital syndrome type 14 (disorder) Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Oro-facial digital syndrome type 1 Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Trichodermodysplasia and dental alterations syndrome Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Oro-facial digital syndrome type 12 Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Oro-facial digital syndrome type 13 Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Curly hair, acral keratoderma, caries syndrome (disorder) Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Chondroectodermal dysplasia (disorder) Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 1
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. Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Chondroectodermal dysplasia with night blindness syndrome (disorder) Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Trichodermodysplasia and dental alterations syndrome Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 2
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. Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Odonto onycho dysplasia with alopecia syndrome (disorder) Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Trichoodontoonychial dysplasia Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Hypertrichosis cubiti (disorder) Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Teebi Shaltout syndrome Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia syndactyly syndrome Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Pilodental dysplasia, refractive errors syndrome Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Pilodental dysplasia, refractive errors syndrome Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Ectodermal dysplasia syndactyly syndrome Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Kirman syndrome Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Oculodentodigital syndrome Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia with nail defect Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Pili torti onychodysplasia syndrome (disorder) Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia with hair-tooth-nail defects Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia and sensorineural deafness syndrome (disorder) Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia with sweating defect Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Trichothiodystrophy (disorder) Finding site False Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 2
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 True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Curry-Hall syndrome Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypohidrosis with neurolabyrinthitis (disorder) Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Dermo-odonto dysplasia (disorder) Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Ackerman syndrome (disorder) Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Senter syndrome Finding site True Ectoderm structure Inferred relationship Existential restriction modifier (core metadata concept) 1

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Reference Sets

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

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