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720464003: syndroom van pigmentanomalie, ectrodactylie en hypodontie (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
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
6030971000146117 ADULT-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6113251000146114 acro-dermato-unguaal-lacrimaal-dentaalsyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6721431000146115 syndroom van pigmentanomalie, ectrodactylie en hypodontie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6721441000146111 syndroom van pigmentanomalie, ectrodactylie en hypodontie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6825621000146116 syndroom van Propping-Zerres nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Is a Ectrodactyly true Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Is a Ectodermal dysplasia with tooth-nail defects true Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Is a Congenital anomaly of tooth (disorder) false Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Occurrence Congenital true Inferred relationship Some 5
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 6
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Finding site Tooth structure false Inferred relationship Some 6
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 4
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Finding site Skin structure false Inferred relationship Some 4
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 5
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Finding site Ectoderm structure false Inferred relationship Some 5
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 7
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Finding site Entire digit false Inferred relationship Some 7
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) Associated morphology congenitale dysplasie (afwijkende morfologie) 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) Occurrence Congenital 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) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 4
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Some 3
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 2
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Finding site Tooth structure true Inferred relationship Some 1
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Finding site Entire digit true Inferred relationship Some 2
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Is a Adactyly false Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 3
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 5
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Finding site Nail unit structure true Inferred relationship Some 5
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Is a 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) Is a Developmental hereditary disorder true Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 2
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Is a Hereditary disorder of tooth true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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