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

Descriptions:

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

Characteristic

Refinability

This concept is not in any reference sets

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)