63206006: Ectoderm structure (body structure)

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

\Developmental body structure\Embryonic structure\Embryo structure\Early differentiated embryonic structure\Histogenic layer\Ectoderm structure

\Structure of product of conception\Embryonic structure\Embryo structure\Early differentiated embryonic structure\Histogenic layer\Ectoderm 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

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
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
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.	Finding site	True	Ectoderm structure	Inferred relationship	Some	1
Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia with characteristics of congenital bitemporal cutis aplasia. The bitemporal rarely unilateral hypoplastic scar-like lesions in FFDD, resembling forceps marks, are usually the only manifestations of FFDD1. Most patients usually have normal intelligence. Transmitted in an autosomal dominant manner with full penetrance.	Finding site	True	Ectoderm structure	Inferred relationship	Some	1
Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia with characteristics of congenital bitemporal scar-like depressions with additional facial dysmorphic features. Cardiac and genital or urinary abnormalities have been rarely noted. Developmental delay, severe intellectual disability, behavioural problems, and learning difficulties may be observed. Transmitted in an autosomal dominant manner with variable expressivity and incomplete penetrance.	Finding site	True	Ectoderm structure	Inferred relationship	Some	1
Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial dermal dysplasia with primary characteristics of congenital bitemporal scar-like depressions and a typical but variable facial dysmorphism. Caused by homozygous mutations in the TWIST2 gene, which encodes a bHLH transcription factor involved in dermal facial development in mammals. However, the majority of unrelated FFDD3 patients evaluated have had normal TWIST2 sequences, indicating the molecular genetic heterogeneity of the disorder. Many cases are sporadic. Inheritance is autosomal recessive for patients with TWIST2 mutations.	Finding site	True	Ectoderm structure	Inferred relationship	Some	1
Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia with characteristics of congenital isolated preauricular and/or cheek blister scar-like lesions. Affected FFDD4 patients typically do not present with extra-cutaneous manifestations, although in a small number of cases, a hair collar sign (circumscription of the cutaneous lesion with terminal hairs), polyps on the buccal mucosa with a similar distribution pattern, and developmental delay have been reported. An autosomal recessive trait.	Finding site	True	Ectoderm structure	Inferred relationship	Some	1
A rare congenital ectodermal disorder characterised by vascularising keratitis, hyperkeratotic skin lesions and hearing loss.	Finding site	True	Ectoderm structure	Inferred relationship	Some	5
Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Some	4
Barber-Say syndrome (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Some	2
Onycho-tricho-dysplasia neutropenia syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Some	1
Sabinas brittle hair syndrome (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Some	1
Incontinentia pigmenti syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Some	1
A rare ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones.	Finding site	True	Ectoderm structure	Inferred relationship	Some	2
A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges.	Finding site	True	Ectoderm structure	Inferred relationship	Some	1
A rare ectodermal dysplasia syndrome characterized by linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism, and body asymmetry, in association with ocular, dental, and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly, and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia, and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation.	Finding site	True	Ectoderm structure	Inferred relationship	Some	1
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypoplastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement.	Finding site	True	Ectoderm structure	Inferred relationship	Some	3
A rare genetic skin disease characterised by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described.	Finding site	True	Ectoderm structure	Inferred relationship	Some	1
A rare ectodermal dysplasia syndrome characterized by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported.	Finding site	True	Ectoderm structure	Inferred relationship	Some	1
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation	Finding site	True	Ectoderm structure	Inferred relationship	Some	2
Schöpf-Schulz-Passarge syndrome	Finding site	True	Ectoderm structure	Inferred relationship	Some	1
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder)	Finding site	True	Ectoderm structure	Inferred relationship	Some	1

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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