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39788007: syndroom van ectrodactylie, ectodermale dysplasie en schisis (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
67088018 Ectrodactyly-ectodermal dysplasia-clefting syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
67089014 EEC syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
492241010 Ectodermal dysplasia with ectrodactyly and cleft lip or palate en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
492242015 Rudiger's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
492243013 EEC - Ectodermal dysplasia with ectrodactyly and cleft lip or palate en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
776307015 Ectrodactyly-ectodermal dysplasia-clefting syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6625611000146115 'ectrodactyly-ectodermal dysplasia-clefting'-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6625641000146119 Rudiger-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6625661000146118 EEC-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6625671000146112 syndroom van Rudiger nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6748581000146111 syndroom van ectrodactylie, ectodermale dysplasie en schisis nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6748591000146113 syndroom van ectrodactylie, ectodermale dysplasie en schisis (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6748601000146115 syndroom van ectrodactylie, ectodermale dysplasie en gespleten lip of gehemelte nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10793161000146118 Ectrodactyly-ectodermal dysplasia-clefting syndroom; aangeboren stoornis met als mogelijke (combinatie van) kenmerken een gespleten hand en voet, waarbij vaak de middelste drie vingers of tenen ontbreken, een gespleten lip of gehemelte, afwijkingen in de ontwikkeling van traanbuizen die ontsteking van de oogleden, hoornvlies en bindvlies kunnen veroorzaken, onverdraagzaamheid van licht, haarproblemen, abnormale nagels, nierproblemen, afwezigheid van tanden, punttanden en gehoorverlies. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ectrodactyly-ectodermal dysplasia-clefting syndrome Is a Ectrodactyly true Inferred relationship Some
Ectrodactyly-ectodermal dysplasia-clefting syndrome Is a Ectodermal dysplasia with hair-tooth-nail-sweating defect true Inferred relationship Some
Ectrodactyly-ectodermal dysplasia-clefting syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology Dysplasia true Inferred relationship Some 2
Ectrodactyly-ectodermal dysplasia-clefting syndrome Finding site Skin structure false Inferred relationship Some 2
Ectrodactyly-ectodermal dysplasia-clefting syndrome Occurrence Congenital false Inferred relationship Some
Ectrodactyly-ectodermal dysplasia-clefting syndrome Finding site Digit structure false Inferred relationship Some 1
Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some
Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology Congenital partial absence false Inferred relationship Some 1
Ectrodactyly-ectodermal dysplasia-clefting syndrome Finding site Musculoskeletal structure of limb false Inferred relationship Some
Ectrodactyly-ectodermal dysplasia-clefting syndrome Is a Disorder of soft tissue of limb false Inferred relationship Some
Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 2
Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology Congenital partial absence false Inferred relationship Some 1
Ectrodactyly-ectodermal dysplasia-clefting syndrome Finding site Digit structure false Inferred relationship Some 6
Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 2
Ectrodactyly-ectodermal dysplasia-clefting syndrome Finding site Skin structure false Inferred relationship Some 2
Ectrodactyly-ectodermal dysplasia-clefting syndrome Occurrence Congenital true Inferred relationship Some 3
Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 3
Ectrodactyly-ectodermal dysplasia-clefting syndrome Occurrence Congenital true Inferred relationship Some 4
Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 4
Ectrodactyly-ectodermal dysplasia-clefting syndrome Finding site Skin structure false Inferred relationship Some 3
Ectrodactyly-ectodermal dysplasia-clefting syndrome Occurrence Congenital true Inferred relationship Some 5
Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 5
Ectrodactyly-ectodermal dysplasia-clefting syndrome Finding site Limb structure false Inferred relationship Some 5
Ectrodactyly-ectodermal dysplasia-clefting syndrome Finding site Face structure true Inferred relationship Some 4
Ectrodactyly-ectodermal dysplasia-clefting syndrome Finding site Skin structure false Inferred relationship Some 7
Ectrodactyly-ectodermal dysplasia-clefting syndrome Occurrence Congenital true Inferred relationship Some 1
Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 1
Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 6
Ectrodactyly-ectodermal dysplasia-clefting syndrome Finding site Skin structure true Inferred relationship Some 1
Ectrodactyly-ectodermal dysplasia-clefting syndrome Finding site Entire digit false Inferred relationship Some 1
Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 5
Ectrodactyly-ectodermal dysplasia-clefting syndrome Is a Skin lesion true Inferred relationship Some
Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology Dysplasia false Inferred relationship Some 7
Ectrodactyly-ectodermal dysplasia-clefting syndrome Finding site Ectoderm structure false Inferred relationship Some 5
Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology Dysplasia true Inferred relationship Some 1
Ectrodactyly-ectodermal dysplasia-clefting syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Ectrodactyly-ectodermal dysplasia-clefting syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
Ectrodactyly-ectodermal dysplasia-clefting syndrome Finding site Entire digit true Inferred relationship Some 3
Ectrodactyly-ectodermal dysplasia-clefting syndrome Finding site Ectoderm structure true Inferred relationship Some 2
Ectrodactyly-ectodermal dysplasia-clefting syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ectrodactyly-ectodermal dysplasia-clefting syndrome Occurrence Congenital true Inferred relationship Some 2
Ectrodactyly-ectodermal dysplasia-clefting syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 3
Ectrodactyly-ectodermal dysplasia-clefting syndrome Interprets Sweating, function (observable entity) true Inferred relationship Some 6
Ectrodactyly-ectodermal dysplasia-clefting syndrome Finding site Tooth structure true Inferred relationship Some 8
Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 7
Ectrodactyly-ectodermal dysplasia-clefting syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 8
Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 5
Ectrodactyly-ectodermal dysplasia-clefting syndrome Finding site Nail unit structure true Inferred relationship Some 7
Ectrodactyly-ectodermal dysplasia-clefting syndrome Occurrence Congenital true Inferred relationship Some 8
Ectrodactyly-ectodermal dysplasia-clefting syndrome Finding site Hair structure (body structure) true Inferred relationship Some 5
Ectrodactyly-ectodermal dysplasia-clefting syndrome Has interpretation Abnormal true Inferred relationship Some 6
Ectrodactyly-ectodermal dysplasia-clefting syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Ectrodactyly-ectodermal dysplasia-clefting syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 7
Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 8
Ectrodactyly-ectodermal dysplasia-clefting syndrome Occurrence Congenital true Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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