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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
5402345013 A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402346014 A rare ectodermal dysplasia syndrome characterised by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3320923017 Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
5402345013 A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402346014 A rare ectodermal dysplasia syndrome characterised by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3423301001000113 ADULT-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5986441000241116 syndrome acrodermato-unguéolacrimodentaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5986451000241118 syndrome ADULT (acro-dermato-ungual-lacrimal-tooth) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5986461000241115 syndrome de Propping-Zerres fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5986441000241116 syndrome acrodermato-unguéolacrimodentaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5986451000241118 syndrome ADULT (acro-dermato-ungual-lacrimal-tooth) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5986461000241115 syndrome de Propping-Zerres fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3423301001000113 ADULT-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
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Is a Ectrodactyly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Is a Ectodermal dysplasia with tooth-nail defects true Inferred relationship Existential restriction modifier (core metadata concept)
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Is a Congenital anomaly of tooth (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Finding site Tooth structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 5
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 7
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Finding site Entire digit false Inferred relationship Existential restriction modifier (core metadata concept) 7
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Finding site Tooth structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Finding site Entire digit true Inferred relationship Existential restriction modifier (core metadata concept) 2
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Is a Adactyly false Inferred relationship Existential restriction modifier (core metadata concept)
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 3
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Finding site Nail unit structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Is a Genetic disorder of nail (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Is a Hereditary disorder of tooth true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Description inactivation indicator reference set

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