715404000: amelo-onycho-hypohidrotisch syndroom (aandoening)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ameloonychohypohidrotic syndrome (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ameloonychohypohidrotic syndrome (disorder)
\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\Genodermatosis\Ectodermal dysplasia\Ameloonychohypohidrotic syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Ameloonychohypohidrotic syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ameloonychohypohidrotic syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ameloonychohypohidrotic syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ameloonychohypohidrotic syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Ameloonychohypohidrotic syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ameloonychohypohidrotic syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Ameloonychohypohidrotic syndrome (disorder)
\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Ameloonychohypohidrotic syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ameloonychohypohidrotic syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Ectodermal dysplasia\Ameloonychohypohidrotic syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ameloonychohypohidrotic syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ameloonychohypohidrotic syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Ameloonychohypohidrotic syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Ameloonychohypohidrotic syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ameloonychohypohidrotic syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ameloonychohypohidrotic syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ameloonychohypohidrotic syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Ameloonychohypohidrotic syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Ectodermal dysplasia\Ameloonychohypohidrotic syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ameloonychohypohidrotic syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ameloonychohypohidrotic syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ameloonychohypohidrotic syndrome (disorder)	Is a	Ectodermal dysplasia	true	Inferred relationship	Some
Ameloonychohypohidrotic syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Ameloonychohypohidrotic syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Ameloonychohypohidrotic syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Ameloonychohypohidrotic syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Ameloonychohypohidrotic syndrome (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
Ameloonychohypohidrotic syndrome (disorder)	Finding site	Ectoderm structure	true	Inferred relationship	Some	2
Ameloonychohypohidrotic syndrome (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
Ameloonychohypohidrotic syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	3
Ameloonychohypohidrotic syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ameloonychohypohidrotic syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Ameloonychohypohidrotic syndrome (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	1
Ameloonychohypohidrotic syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Ameloonychohypohidrotic syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Ameloonychohypohidrotic syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Ameloonychohypohidrotic syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3302487013	Ameloonychohypohidrotic syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302488015	Ameloonychohypohidrotic syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302489011	Amelo-onycho-hypohidrotic syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6327411000146119	amelo-onycho-hypohidrotisch syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6327421000146112	amelo-onycho-hypohidrotisch syndroom (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3302490019	A rare syndrome comprising hypocalcified-hypoplastic tooth enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core