205564003: congenitale pigmentafwijkingen van huid (aandoening)

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

\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies
\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\Congenital pigmentary skin anomalies
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies

\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies

\Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies
\Disease\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital pigmentary skin anomalies	Is a	Congenital anomaly of tongue	false	Inferred relationship	Some
Congenital pigmentary skin anomalies	Is a	Congenital anomaly of integument	false	Inferred relationship	Some
Congenital pigmentary skin anomalies	Is a	Congenital heart disease	false	Inferred relationship	Some
Congenital pigmentary skin anomalies	Finding site	Structure of skin region	false	Inferred relationship	Some	1
Congenital pigmentary skin anomalies	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Congenital pigmentary skin anomalies	Finding site	Jaw region structure	false	Inferred relationship	Some
Congenital pigmentary skin anomalies	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Congenital pigmentary skin anomalies	Occurrence	Congenital	false	Inferred relationship	Some
Congenital pigmentary skin anomalies	Finding site	Upper gastrointestinal tract structure	false	Inferred relationship	Some
Congenital pigmentary skin anomalies	Finding site	Heart structure	false	Inferred relationship	Some
Congenital pigmentary skin anomalies	Finding site	Tongue structure	false	Inferred relationship	Some	1
Congenital pigmentary skin anomalies	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Congenital pigmentary skin anomalies	Finding site	Cardiovascular system subdivision	false	Inferred relationship	Some	2
Congenital pigmentary skin anomalies	Is a	Congenital anomaly of skin	true	Inferred relationship	Some
Congenital pigmentary skin anomalies	Is a	Site-specific disorder of skin	false	Inferred relationship	Some
Congenital pigmentary skin anomalies	Is a	Disorder of skin pigmentation (disorder)	true	Inferred relationship	Some
Congenital pigmentary skin anomalies	Associated morphology	Pigment alteration	false	Inferred relationship	Some	2
Congenital pigmentary skin anomalies	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital pigmentary skin anomalies	Finding site	Skin structure	false	Inferred relationship	Some	2
Congenital pigmentary skin anomalies	Finding site	Skin structure	false	Inferred relationship	Some	2
Congenital pigmentary skin anomalies	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital pigmentary skin anomalies	Finding site	Skin structure	false	Inferred relationship	Some	2
Congenital pigmentary skin anomalies	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital pigmentary skin anomalies	Finding site	Skin structure	false	Inferred relationship	Some	1
Congenital pigmentary skin anomalies	Finding site	Skin structure	false	Inferred relationship	Some	2
Congenital pigmentary skin anomalies	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital pigmentary skin anomalies	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
Congenital pigmentary skin anomalies	Finding site	Skin structure	false	Inferred relationship	Some	3
Congenital pigmentary skin anomalies	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital pigmentary skin anomalies	Associated morphology	Pigment alteration	true	Inferred relationship	Some	1
Congenital pigmentary skin anomalies	Finding site	Skin structure	true	Inferred relationship	Some	1
Congenital pigmentary skin anomalies	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital pigmentary skin anomaly NOS	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Some
Congenital deficiency of pigment of skin	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Some
Terminal osseous dysplasia and pigmentary defect syndrome (disorder)	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Some
Neuroectodermal melanolysosomal disease (disorder)	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Some
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Some
Carney complex (disorder)	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Some
Familial progressive hyper and hypopigmentation	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Some
Carney complex, trismus, pseudocamptodactyly syndrome	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Some
Hereditary benign acanthosis nigricans	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Some
Hereditary benign acanthosis nigricans with insulin resistance	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Some
Hypotrichosis with keratosis pilaris and lentiginosis	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Some
Peutz-Jeghers syndrome	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Some
Familial generalised lentiginosis	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Some
Centrofacial lentiginosis syndrome	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Some
Inherited cutaneous hyperpigmentation	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Some
Pseudoleprechaunism syndrome Patterson type (disorder)	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Some
Neurocutaneous melanosis sequence	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Some
McCune Albright syndrome (disorder)	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Some
Birthmark	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Some
Arterial dissection and lentiginosis syndrome (disorder)	Is a	False	Congenital pigmentary skin anomalies	Inferred relationship	Some
Dermal melanocytic hamartoma (disorder)	Is a	True	Congenital pigmentary skin anomalies	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

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Id	Description	Lang	Type	Status	Case?	Module
315243010	Congenital pigmentary skin anomalies	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
590950015	Congenital pigmentary skin anomalies (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2475672012	Congenital pigmentary anomaly of skin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
370951000146113	congenitale pigmentafwijkingen van huid	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
370961000146111	congenitale pigmentafwijkingen van huid (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)