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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
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) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique 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) survenue (attribut) congénital true Inferred relationship Some 3
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) localisation d'une constatation (attribut) 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) survenue (attribut) congénital 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) morphologie associée (attribut) Congenital absence false Inferred relationship Some 1
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) est un(e) (attribut) Congenital anomaly of macula (disorder) true Inferred relationship Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) morphologie associée (attribut) Dystrophy (morphologic abnormality) true Inferred relationship Some 3
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) localisation d'une constatation (attribut) Macula lutea structure true Inferred relationship Some 3
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) localisation d'une constatation (attribut) Ectoderm structure true Inferred relationship Some 2
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) est un(e) (attribut) Adactyly false Inferred relationship Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 2
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) morphologie associée (attribut) Absence (morphologic abnormality) true Inferred relationship Some 1
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) est un(e) (attribut) Ectodermal dysplasia true Inferred relationship Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) est un(e) (attribut) Ectrodactyly true Inferred relationship Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) est un(e) (attribut) Hereditary macular dystrophy true Inferred relationship Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 4
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) localisation d'une constatation (attribut) Ectoderm structure false Inferred relationship Some 4
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) morphologie associée (attribut) Dystrophy (morphologic abnormality) false Inferred relationship Some 5
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) localisation d'une constatation (attribut) Macula lutea structure false Inferred relationship Some 5
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 4
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) morphologie associée (attribut) Congenital absence false Inferred relationship Some 7
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) localisation d'une constatation (attribut) Entire digit false Inferred relationship Some 7
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 6
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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