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720856002: Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3322306013 Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322307016 Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322308014 EEM (ectodermal dysplasia, ectrodactyly, macular dystrophy) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322309018 EEM syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402506019 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402507011 A rare ectodermal dysplasia syndrome characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322306013 Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322306013 Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322307016 Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322307016 Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322308014 EEM (ectodermal dysplasia, ectrodactyly, macular dystrophy) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322309018 EEM syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322310011 Syndrome with the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. Appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402506019 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402507011 A rare ectodermal dysplasia syndrome characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
650951000274116 Ektodermale Dysplasie mit Ektrodaktylie und Makuladystrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3395791001000115 EEM-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6105511000241110 syndrome de dysplasie ectodermique, ectrodactylie et dystrophie maculaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6105521000241115 syndrome EEM (ectodermal dysplasia, ectrodactyly and macular dystrophy) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6105511000241110 syndrome de dysplasie ectodermique, ectrodactylie et dystrophie maculaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6105521000241115 syndrome EEM (ectodermal dysplasia, ectrodactyly and macular dystrophy) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
650951000274116 Ektodermale Dysplasie mit Ektrodaktylie und Makuladystrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3395791001000115 EEM-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Is a Ectodermal dysplasia true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Is a Ectrodactyly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Is a Hereditary macular dystrophy true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Associated morphology Dystrophy false Inferred relationship Existential restriction modifier (core metadata concept) 5
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Finding site Macula lutea structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 7
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Finding site Entire digit false Inferred relationship Existential restriction modifier (core metadata concept) 7
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Finding site Entire digit true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Is a Congenital anomaly of macula true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Finding site Macula lutea structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Is a Adactyly false Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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