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720856002: syndroom van ectodermale dysplasie, ectrodactylie en maculadystrofie (aandoening)


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
6593651000146116 EEM-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6723691000146116 syndroom van ectodermale dysplasie, ectrodactylie en maculadystrofie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6723701000146116 syndroom van ectodermale dysplasie, ectrodactylie en maculadystrofie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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


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 Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Is a Ectrodactyly true Inferred relationship Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Is a Hereditary macular dystrophy true Inferred relationship Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 4
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Finding site Ectoderm structure false Inferred relationship Some 4
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Associated morphology Dystrophy false Inferred relationship Some 5
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Finding site Macula lutea structure false Inferred relationship Some 5
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Finding site Skin structure true Inferred relationship Some 4
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 7
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Finding site Entire digit false Inferred relationship Some 7
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 6
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Finding site Skin structure false Inferred relationship Some 6
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Finding site Entire digit true Inferred relationship Some 1
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 1
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Is a Congenital anomaly of macula true Inferred relationship Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Associated morphology Dystrophy true Inferred relationship Some 3
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Finding site Macula lutea structure true Inferred relationship Some 3
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 2
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Some 2
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Is a Adactyly false Inferred relationship Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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