399947002: progeria met kort gestalte en gepigmenteerde naevi (aandoening)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Progeroid short stature with pigmented nevi (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Progeroid short stature with pigmented nevi (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Progeroid short stature with pigmented nevi (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Progeroid short stature with pigmented nevi (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Progeroid short stature with pigmented nevi (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Progeroid short stature with pigmented nevi (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Premature aging syndrome (disorder)\Progeroid short stature with pigmented nevi (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Progeroid short stature with pigmented nevi (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Premature aging syndrome (disorder)\Progeroid short stature with pigmented nevi (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Progeroid short stature with pigmented nevi (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Progeroid short stature with pigmented nevi (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Progeroid short stature with pigmented nevi (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Premature aging syndrome (disorder)\Progeroid short stature with pigmented nevi (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Progeroid short stature with pigmented nevi (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Progeroid short stature with pigmented nevi (disorder)	Is a	Premature aging syndrome (disorder)	true	Inferred relationship	Some
Progeroid short stature with pigmented nevi (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Progeroid short stature with pigmented nevi (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	2

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
1767867012	Progeroid short stature with pigmented nevi (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1773476012	Progeroid short stature with pigmented naevi	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1774762017	Progeroid short stature with pigmented nevi	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1787044017	Baraitser syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1787045016	Mulvihill-Smith syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
7828281000146111	progeria met kort gestalte en gepigmenteerde naevi (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7828291000146113	progeria met kort gestalte en gepigmenteerde naevi	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7828301000146112	Mulvihill-Smith-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)