254154003: congenitaal ectodermaal defect (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of embryonic structure (disorder)\Congenital ectodermal defect

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect

\Developmental disorder\Congenital malformation\Congenital ectodermal defect

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378332019 Congenital ectodermal defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

645006015 Congenital ectodermal defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

693061000146115 congenitaal ectodermaal defect (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

693071000146114 congenitaal ectodermaal defect nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital ectodermal defect	Is a	Congenital anomaly of skin	false	Inferred relationship	Some
Congenital ectodermal defect	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital ectodermal defect	Occurrence	Congenital	false	Inferred relationship	Some
Congenital ectodermal defect	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Congenital ectodermal defect	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital ectodermal defect	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Congenital ectodermal defect	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital ectodermal defect	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Congenital ectodermal defect	Finding site	Skin structure	false	Inferred relationship	Some	2
Congenital ectodermal defect	Is a	Congenital malformation	true	Inferred relationship	Some
Congenital ectodermal defect	Is a	Disorder of embryonic structure (disorder)	true	Inferred relationship	Some
Congenital ectodermal defect	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital ectodermal defect	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Congenital ectodermal defect	Finding site	Ectoderm structure	true	Inferred relationship	Some	1
Congenital ectodermal defect	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital ectodermal defect	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ectodermal dysplasia	Is a	True	Congenital ectodermal defect	Inferred relationship	Some
Neural tube defect	Is a	True	Congenital ectodermal defect	Inferred relationship	Some
Global developmental delay, osteopenia, ectodermal defect syndrome (disorder)	Is a	True	Congenital ectodermal defect	Inferred relationship	Some
syndroom van neuro-ectodermale en endocriene afwijkingen (aandoening)	Is a	False	Congenital ectodermal defect	Inferred relationship	Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)	Is a	True	Congenital ectodermal defect	Inferred relationship	Some
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder)	Is a	True	Congenital ectodermal defect	Inferred relationship	Some
Scalp, ear, nipple syndrome (disorder)	Is a	False	Congenital ectodermal defect	Inferred relationship	Some
Hypotrichosis with juvenile macular degeneration syndrome (disorder)	Is a	False	Congenital ectodermal defect	Inferred relationship	Some
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder)	Is a	True	Congenital ectodermal defect	Inferred relationship	Some

This concept is not in any reference sets