63206006: Ectoderm structure (body structure)

SNOMED CT Concept\Body structure\Anatomical or acquired body structure (body structure)\Anatomical structure\...

\Developmental body structure (body structure)\Embryonic structure\Embryo structure\Early differentiated embryonic structure\Structure of histogenic layer (body structure)\Ectoderm structure

\Structure of product of conception (body structure)\Embryonic structure\Embryo structure\Early differentiated embryonic structure\Structure of histogenic layer (body structure)\Ectoderm structure

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

Descriptions:

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
Senter syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectrodactyly-ectodermal dysplasia-clefting syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ectodermal dysplasia-ocular malformation syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	1
Contracture with ectodermal dysplasia and orofacial cleft syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hay-Wells syndrome of ectodermal dysplasia (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ectodermal dysplasia with hair-tooth defects	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Odontomicronychial ectodermal dysplasia	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with tooth-nail-sweating defect	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Choroidal atrophy and alopecia syndrome (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Robinson nail dystrophy-deafness syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hidrotic ectodermal dysplasia Halal type (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Blepharocheilodontic syndrome (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	3
Ectodermal dysplasia with hair-tooth-nail-sweating defect	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Book syndrome (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ectodermal dysplasia with tooth-nail defects	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
syndrome dento-oculocutané	Finding site	False	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with tooth-sweating defect	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Johnson neuroectodermal syndrome (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Trichodental syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anonychia with bizarre flexural pigmentation	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
dysplasie dermodentaire	Finding site	False	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Tricho-onychodental dysplasia	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Triphalangeal thumbs with onychodystrophy	Finding site	False	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Salamon's syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Flynn-Aird syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypohidrotic X-linked ectodermal dysplasia	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia, syndactyly and pili torti	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Johanson-Blizzard syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive popliteal pterygium syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ectodermal dysplasia of face	Finding site	False	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Odonto-onychial dysplasia with alopecia	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Schinzel-Giedion syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Fried's tooth and nail syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypohidrosis-diabetes insipidus syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Odonto-onycho-dermal dysplasia (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Contracture with ectodermal dysplasia and orofacial cleft syndrome	Finding site	False	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Dwarfism, alopecia, pseudoanodontia, cutis laxa	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
syndrome de Moynahan	Finding site	False	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hallermann-Streiff syndrome (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Oculotrichodysplasia	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Roselli-Gulienetti ectodermal dysplasia	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Berlin syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Tricho-dento-osseous syndrome (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Schoepf-Schulz-Passage syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hidrotic ectodermal dysplasia syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Limb mammary syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Basan syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypodontia and nail dysgenesis	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Greither type of ectodermal dysplasia (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Trichodysplasia with amelogenesis imperfecta syndrome (disorder)	Finding site	False	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
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	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Trichothiodystrophy (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	1
Sparse hair with short stature and skin anomaly syndrome	Finding site	False	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
DOORS syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	2
Zlotogora Ogur syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Marshall syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Amelogenesis imperfecta, intellectual disability, and epileptic seizures.	Finding site	False	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	3
Neuroectodermal endocrine syndrome	Finding site	False	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pachyonychia congenita type III of Schafer-Brunauer	Finding site	False	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Stern Lubinsky Durrie syndrome (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Odonto-tricho-ungual-digito-palmar syndrome (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Pachyonychia congenita type II of Jackson-Lawler	Finding site	False	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	1
Sandman-Andra syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Existential restriction modifier (core metadata concept)	4
Cranioectodermal dysplasia	Finding site	False	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Deafness with onychodystrophy syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dermotrichic syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cranioectodermal dysplasia	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Amelogenesis imperfecta, intellectual disability, and epileptic seizures.	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Arthrogryposis and ectodermal dysplasia syndrome (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Papillon-Lefèvre syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal syndrome with hair-tooth-sweating defects (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal syndrome with hair-sweating defects	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita, characterised by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anaemia.	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal recessive dyskeratosis congenita	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal dominant dyskeratosis congenita (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
X-linked dyskeratosis congenita (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dyskeratosis congenita	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Revesz syndrome (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Existential restriction modifier (core metadata concept)	11

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Reference Sets

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

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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