239046007: Ectodermal dysplasia with nail defect (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\...

\Nail finding\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect
\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect
\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect

\Finding of limb structure (finding)\Nail finding\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect
\Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of nail\Ectodermal dysplasia with nail defect
\Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Ectodermal dysplasia with nail defect

\General finding of soft tissue\Skin finding\Nail finding\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect

\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect
\Integumentary system finding\Skin finding\Nail finding\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect

\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with nail defect
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with nail defect
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Ectodermal dysplasia with nail defect
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect
\Disease\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of nail\Ectodermal dysplasia with nail defect
\Disease\Disorder of limb\Disorder of digit\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Ectodermal dysplasia with nail defect
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with nail defect
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of nail\Ectodermal dysplasia with nail defect
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect
\Disease\Developmental disorder (disorder)\Developmental abnormality of nail (disorder)\Congenital anomaly of nail\Ectodermal dysplasia with nail defect

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ectodermal dysplasia with nail defect	Is a	Ectodermal dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with nail defect	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with nail defect	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ectodermal dysplasia with nail defect	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with nail defect	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with nail defect	Is a	Nail deformity	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with nail defect	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with nail defect	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ectodermal dysplasia with nail defect	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with nail defect	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with nail defect	Associated morphology	Deformity (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ectodermal dysplasia with nail defect	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with nail defect	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with nail defect	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ectodermal dysplasia with nail defect	Is a	Disorder of soft tissue of limb	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with nail defect	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with nail defect	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with nail defect	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ectodermal dysplasia with nail defect	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ectodermal dysplasia with nail defect	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with nail defect	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with nail defect	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ectodermal dysplasia with nail defect	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with nail defect	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ectodermal dysplasia with nail defect	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with nail defect	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ectodermal dysplasia with nail defect	Is a	Disorder of nail	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with nail defect	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with nail defect	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ectodermal dysplasia with nail defect	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ectodermal dysplasia with nail defect	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ectodermal dysplasia with nail defect	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ectodermal dysplasia with nail defect	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ectodermal dysplasia with nail defect	Finding site	Ectoderm structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ectodermal dysplasia with nail defect	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ectodermal dysplasia with nail defect	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ectodermal dysplasia with nail defect	Finding site	Ectoderm structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with nail defect	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with nail defect	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with nail defect	Finding site	Skin appendage structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with nail defect	Finding site	Nail unit structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with nail defect	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ectodermal dysplasia with nail defect	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ectodermal dysplasia with nail defect	Is a	Congenital anomaly of nail	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Triphalangeal thumbs with onychodystrophy	Is a	False	Ectodermal dysplasia with nail defect	Inferred relationship	Existential restriction modifier (core metadata concept)
Laryngo-onychocutaneous syndrome	Is a	False	Ectodermal dysplasia with nail defect	Inferred relationship	Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly type V (disorder)	Is a	False	Ectodermal dysplasia with nail defect	Inferred relationship	Existential restriction modifier (core metadata concept)
DOORS syndrome	Is a	False	Ectodermal dysplasia with nail defect	Inferred relationship	Existential restriction modifier (core metadata concept)
Deafness with onychodystrophy syndrome	Is a	True	Ectodermal dysplasia with nail defect	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with hair-nail defect	Is a	True	Ectodermal dysplasia with nail defect	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with tooth-nail defects	Is a	True	Ectodermal dysplasia with nail defect	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
358233010	Ectodermal dysplasia with nail defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
628010011	Ectodermal dysplasia with nail defect (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
358233010	Ectodermal dysplasia with nail defect	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
358233010	Ectodermal dysplasia with nail defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
628010011	Ectodermal dysplasia with nail defect (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
628010011	Ectodermal dysplasia with nail defect (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
80521000077115	dysplasie ectodermique avec anomalie de l'ongle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
80521000077115	dysplasie ectodermique avec anomalie de l'ongle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module