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720464003: Acro-dermato-ungual-lacrimal-tooth 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
3320923017 Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3320924011 Acro-dermato-ungual-lacrimal-tooth syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3320925012 ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3320926013 The ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome has characteristics of ectrodactyly, excessive freckling, onychodysplasia, obstruction of lacrimal ducts and hypodontia and/or early loss of permanent teeth. Variable clinical expression is observed. Fourteen cases have been described so far. Transmission is autosomal dominant. 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
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 3
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 4
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) localisation d'une constatation (attribut) Ectoderm structure true Inferred relationship Some 3
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) morphologie associée (attribut) Congenital absence false Inferred relationship Some 2
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) localisation d'une constatation (attribut) dent (structure corporelle) true Inferred relationship Some 1
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) localisation d'une constatation (attribut) Entire digit true Inferred relationship Some 2
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) est un(e) (attribut) Adactyly false Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 3
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 5
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) localisation d'une constatation (attribut) Nail unit structure true Inferred relationship Some 5
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) est un(e) (attribut) Genetic disorder of nail (disorder) true Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) morphologie associée (attribut) Absence (morphologic abnormality) true Inferred relationship Some 2
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) est un(e) (attribut) Hereditary disorder of tooth true Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) est un(e) (attribut) Ectrodactyly true Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) est un(e) (attribut) Ectodermal dysplasia with tooth-nail defects true Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) est un(e) (attribut) Congenital anomaly of tooth (disorder) false Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 6
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) localisation d'une constatation (attribut) dent (structure corporelle) false Inferred relationship Some 6
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 4
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 5
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) localisation d'une constatation (attribut) Ectoderm structure false Inferred relationship Some 5
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) morphologie associée (attribut) Congenital absence false Inferred relationship Some 7
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) localisation d'une constatation (attribut) Entire digit false Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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